Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

Molecular and Cellular Endocrinology

Volumn 411, Issue , 2015, Pages 243-257

  Laissue, Paul ^a  

^a UNIVERSIDAD DEL ROSARIO   (Colombia)

Author keywords

Female infertility; Genetic aetiology; Next generation sequencing; Premature ovarian failure

Indexed keywords

BONE MORPHOGENETIC PROTEIN 15; FOLLITROPIN RECEPTOR; LUTEINIZING HORMONE RECEPTOR; STEROIDOGENIC FACTOR 1;

ADAMTS19 GENE; BMP15 GENE; BMPR2 GENE; CITED2 GENE; FIGLA GENE; FOXL2 GENE; FSHR GENE; GENE; GENE CONTROL; GENE DOSAGE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC LINKAGE; GENETIC VARIABILITY; HERITABILITY; HUMAN; LHCGR GENE; NANOS3 GENE; NEXT GENERATION SEQUENCING; NOBOX GENE; NONHUMAN; NR5A1 GENE; OVARY FOLLICLE DEVELOPMENT; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; QUANTITATIVE TRAIT LOCUS; REPRODUCTION; REPRODUCTIVE FITNESS; REVIEW; SEX DETERMINATION; STAG3 GENE; EARLY MENOPAUSE; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION;

FEMALE; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MENOPAUSE, PREMATURE; MUTATION; PRIMARY OVARIAN INSUFFICIENCY;

EID: 84930177860     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2015.05.005     Document Type: Review

References (259)

1. Abel M.H., Wootton A.N., Wilkins V., Huhtaniemi I., Knight P.G., Charlton H.M. The effect of a null mutation in the follicle-stimulating hormone receptor gene on mouse reproduction. Endocrinology 2000, 141:1795-1803.
2. Aittomäki K. The genetics of XX gonadal dysgenesis. Am. J. Hum. Genet 1994, 54:844-851.
3. Aittomäki K., Lucena J.L., Pakarinen P., Sistonen P., Tapanainen J., Gromoll J., et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995, 82:959-968.
4. Albert T.J., Molla M.N., Muzny D.M., Nazareth L., Wheeler D., Song X., et al. Direct selection of human genomic loci by microarray hybridization. Nat. Methods 2007, 4:903-905.
5. Allen L.A., Achermann J.C., Pakarinen P., Kotlar T.J., Huhtaniemi I.T., Jameson J.L., et al. A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. Hum. Reprod 2003, 18:251-256.
6. Allingham-Hawkins D.J., Babul-Hirji R., Chitayat D., Holden J.J., Yang K.T., Lee C., et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study - preliminary data. Am. J. Med. Genet 1999, 83:322-325.
7. Asaoka-Taguchi M., Yamada M., Nakamura A., Hanyu K., Kobayashi S. Maternal Pumilio acts together with Nanos in germline development in Drosophila embryos. Nat. Cell Biol 1999, 1:431-437.
8. Ascoli M., Segaloff D.L. On the structure of the luteinizing hormone/chorionic gonadotropin receptor. Endocr. Rev 1989, 10:27-44.
9. Ascoli M., Fanelli F., Segaloff D.L. The lutropin/choriogonadotropin receptor, a 2002 perspective. Endocr. Rev 2002, 23:141-174.
10. Ball A.R., Chen Y.-Y., Yokomori K. Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies. Biochim. Biophys. Acta 2014, 1839:191-202.
11. Bardhan A. Many functions of the meiotic cohesin. Chromosome Res 2010, 18:909-924.
12. Bardoni B., Zanaria E., Guioli S., Floridia G., Worley K.C., Tonini G., et al. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat. Genet 1994, 7:497-501.
13. Bayne R.A.L., Martins da Silva S.J., Anderson R.A. Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary. Mol. Hum. Reprod 2004, 10:373-381.
14. Beau I., Touraine P., Meduri G., Gougeon A., Desroches A., Matuchansky C., et al. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J. Clin. Invest 1998, 102:1352-1359.
15. Belli M., Cimadomo D., Merico V., Redi C.A., Garagna S., Zuccotti M. The NOBOX protein becomes undetectable in developmentally competent antral and ovulated oocytes. Int. J. Dev. Biol 2013, 57:35-39.
16. Benayoun B.A., Kalfa N., Sultan C., Veitia R.A. The forkhead factor FOXL2: a novel tumor suppressor?. Biochim. Biophys. Acta 2010, 1805:1-5.
17. Benayoun B.A., Caburet S., Veitia R.A. Forkhead transcription factors: key players in health and disease. Trends Genet 2011, 27:224-232.
18. Berger B., Peng J., Singh M. Computational solutions for omics data. Nat. Rev. Genet 2013, 14:333-346.
19. Beysen D., Moumné L., Veitia R., Peters H., Leroy B.P., De Paepe A., et al. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Hum. Mol. Genet 2008, 17:2030-2038.
20. Beysen D., De Paepe A., De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum. Mutat 2009, 30:158-169.
21. Biesecker L.G., Green R.C. Diagnostic clinical genome and exome sequencing. N. Engl. J. Med 2014, 371:1170.
22. Bird T.D., Ott J., Giblett E.R. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am. J. Hum. Genet 1982, 34:388-394.
23. Bolcun-Filas E., Hall E., Speed R., Taggart M., Grey C., de Massy B., et al. Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair. PLoS Genet 2009, 5. e1000393.
24. Botstein D., Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat. Genet 2003, 33(Suppl.):228-237.
25. Bouilly J., Bachelot A., Broutin I., Touraine P., Binart N. Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. Hum. Mutat 2011, 32:1108-1113.
26. Bouilly J., Veitia R.A., Binart N. NOBOX is a key FOXL2 partner involved in ovarian folliculogenesis. J. Mol. Cell Biol 2014, 6:175-177.
27. Bouilly J., Roucher-Boulez F., Gompel A., Bry-Gauillard H., Azibi K., Beldjord C., et al. New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression. J. Clin. Endocrinol. Metab 2015, 100:994-1001.
28. Boycott K.M., Vanstone M.R., Bulman D.E., MacKenzie A.E. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat. Rev. Genet 2013, 14:681-691.
29. Bruysters M., Christin-Maitre S., Verhoef-Post M., Sultan C., Auger J., Faugeron I., et al. A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister. Hum. Reprod 2008, 23:1917-1923.
30. Caburet S., Demarez A., Moumné L., Fellous M., De Baere E., Veitia R.A. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J. Med. Genet 2004, 41:932-936.
31. Caburet S., Zavadakova P., Ben-Neriah Z., Bouhali K., Dipietromaria A., Charon C., et al. Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure. PLoS ONE 2012, 7. e33412.
32. Caburet S., Arboleda V.A., Llano E., Overbeek P.A., Barbero J.L., Oka K., et al. Mutant cohesin in premature ovarian failure. N. Engl. J. Med 2014, 370:943-949.
33. Camats N., Pandey A., Fernández-Cancio M., Andaluz P., Janner M., Torán N., et al. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J. Clin. Endocrinol. Metab 2012, 97:E1294-E1306.
34. Chang H., Brown C.W., Matzuk M.M. Genetic analysis of the mammalian transforming growth factor-beta superfamily. Endocr. Rev 2002, 23:787-823.
35. Choi M., Lee O.-H., Jeon S., Park M., Lee D.R., Ko J.-J., et al. The oocyte-specific transcription factor, Nobox, regulates the expression of Pad6, a peptidylarginine deiminase in the oocyte. FEBS Lett 2010, 584:3629-3634.
36. Choi Y., Rajkovic A. Characterization of NOBOX DNA binding specificity and its regulation of Gdf9 and Pou5f1 promoters. J. Biol. Chem 2006, 281:35747-35756.
37. Chotai J. On the lod score method in linkage analysis. Ann. Hum. Genet 1984, 48:359-378.
38. Cocquet J., Pailhoux E., Jaubert F., Servel N., Xia X., Pannetier M., et al. Evolution and expression of FOXL2. J. Med. Genet 2002, 39:916-921.
39. Combes A.N., Spiller C.M., Harley V.R., Sinclair A.H., Dunwoodie S.L., Wilhelm D., et al. Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation. Int. J. Dev. Biol 2010, 54:683-689.
40. Conway G.S. Premature ovarian failure. Br. Med. Bull 2000, 56:643-649.
41. Costa Y., Cooke H.J. Dissecting the mammalian synaptonemal complex using targeted mutations. Chromosome Res 2007, 15:579-589.
42. Costa Y., Speed R., Ollinger R., Alsheimer M., Semple C.A., Gautier P., et al. Two novel proteins recruited by synaptonemal complex protein 1 (SYCP1) are at the centre of meiosis. J. Cell Sci 2005, 118:2755-2762.
43. Coulam C.B. Premature gonadal failure. Fertil. Steril 1982, 38:645-655.
44. Coulam C.B., Adamson S.C., Annegers J.F. Incidence of premature ovarian failure. Obstet. Gynecol 1986, 67:604-606.
45. Cox L., Liu J.H. Primary ovarian insufficiency: an update. Int. J. Womens Health 2014, 6:235-243.
46. Crisponi L., Deiana M., Loi A., Chiappe F., Uda M., Amati P., et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet 2001, 27:159-166.
47. de Mello M.P., de França E.S., Fabbri H.C., Maciel-Guerra A.T., Guerra-Júnior G. Multifunctional role of steroidogenic factor 1 and disorders of sex development. Arq. Bras. Endocrinol. Metabol 2011, 55:607-612.
48. Da Fonte Kohek M.B., Batista M.C., Russell A.J., Vass K., Giacaglia L.R., Mendonca B.B., et al. No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure. Fertil. Steril 1998, 70:565-567.
49. Davison R.M., Fox M., Conway G.S. Mapping of the POF1 locus and identification of putative genes for premature ovarian failure. Mol. Hum. Reprod 2000, 6:314-318.
50. Dawn Teare M., Barrett J.H. Genetic linkage studies. Lancet 2005, 366:1036-1044.
51. De Baere E., Dixon M.J., Small K.W., Jabs E.W., Leroy B.P., Devriendt K., et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype - phenotype correlation. Hum. Mol. Genet 2001, 10:1591-1600.
52. De Baere E., Beysen D., Oley C., Lorenz B., Cocquet J., De Sutter P., et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am. J. Hum. Genet 2003, 72:478-487.
53. De la Chesnaye E., Canto P., Ulloa-Aguirre A., Méndez J.P. No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis. Am. J. Med. Genet 2001, 98:125-128.
54. De Vries L., Behar D.M., Smirin-Yosef P., Lagovsky I., Tzur S., Basel-Vanagaite L. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J. Clin. Endocrinol. Metab 2014, 99:E2129-E2132.
55. Demars J., Fabre S., Sarry J., Rossetti R., Gilbert H., Persani L., et al. Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep. PLoS Genet 2013, 9. e1003482.
56. Desai S.S., Roy B.S., Mahale S.D. Mutations and polymorphisms in FSH receptor: functional implications in human reproduction. Reproduction 2013, 146:R235-R248.
57. Di Pasquale E., Beck-Peccoz P., Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am. J. Hum. Genet 2004, 75:106-111.
58. Dias J.A., Cohen B.D., Lindau-Shepard B., Nechamen C.A., Peterson A.J., Schmidt A. Molecular, structural, and cellular biology of follitropin and follitropin receptor. Vitam. Horm 2002, 64:249-322.
59. Dierich A., Sairam M.R., Monaco L., Fimia G.M., Gansmuller A., LeMeur M., et al. Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance. Proc. Natl. Acad. Sci. U.S.A. 1998, 95:13612-13617.
60. Dipietromaria A., Benayoun B.A., Todeschini A.-L., Rivals I., Bazin C., Veitia R.A. Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems. Hum. Mol. Genet 2009, 18:3324-3333.
61. Dixit H., Rao L.K., Padmalatha V.V., Kanakavalli M., Deenadayal M., Gupta N., et al. Missense mutations in the BMP15 gene are associated with ovarian failure. Hum. Genet 2006, 119:408-415.
62. Doherty E., Pakarinen P., Tiitinen A., Kiilavuori A., Huhtaniemi I., Forrest S., et al. A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J. Clin. Endocrinol. Metab 2002, 87:1151-1155.
63. Dong J., Albertini D.F., Nishimori K., Kumar T.R., Lu N., Matzuk M.M. Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 1996, 383:531-535.
64. Dragojević-Dikić S., Marisavljević D., Mitrović A., Dikić S., Jovanović T., Janković-Raznatović S. An immunological insight into premature ovarian failure (POF). Autoimmun. Rev 2010, 9:771-774.
65. Dube J.L., Wang P., Elvin J., Lyons K.M., Celeste A.J., Matzuk M.M. The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. Mol. Endocrinol 1998, 12:1809-1817.
66. Eichler E.E., Flint J., Gibson G., Kong A., Leal S.M., Moore J.H., et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet 2010, 11:446-450.
67. Eijkelenboom A., Burgering B.M.T. FOXOs: signalling integrators for homeostasis maintenance. Nat. Rev. Mol. Cell Biol 2013, 14:83-97.
68. Ellsworth B.S., Egashira N., Haller J.L., Butts D.L., Cocquet J., Clay C.M., et al. FOXL2 in the pituitary: molecular, genetic, and developmental analysis. Mol. Endocrinol 2006, 20:2796-2805.
69. Elsheikh M., Dunger D.B., Conway G.S., Wass J.A.H. Turner's syndrome in adulthood. Endocr. Rev 2002, 23:120-140.
70. Erickson G.F., Shimasaki S. The spatiotemporal expression pattern of the bone morphogenetic protein family in rat ovary cell types during the estrous cycle. Reprod. Biol. Endocrinol 2003, 1:9.
71. Fabre S., Pierre A., Mulsant P., Bodin L., Di Pasquale E., Persani L., et al. Regulation of ovulation rate in mammals: contribution of sheep genetic models. Reprod. Biol. Endocrinol 2006, 4:20.
72. Fan Q.R., Hendrickson W.A. Structure of human follicle-stimulating hormone in complex with its receptor. Nature 2005, 433:269-277.
73. Fan Q.R., Hendrickson W.A. Comparative structural analysis of the binding domain of follicle stimulating hormone receptor. Proteins 2008, 72:393-401.
74. Ferraz-de-Souza B., Lin L., Achermann J.C. Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Mol. Cell. Endocrinol 2011, 336:198-205.
75. Fonseca D.J., Ojeda D., Lakhal B., Braham R., Eggers S., Turbitt E., et al. CITED2 mutations potentially cause idiopathic premature ovarian failure. Transl. Res 2012, 160:384-388.
76. Fonseca D.J., Ortega-Recalde O., Esteban-Perez C., Moreno-Ortiz H., Patiño L.C., Bermúdez O.M., et al. BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure. Reprod. Biomed. Online 2014, 29:627-633.
77. Fonseca D.J., Patiño L.C., Suárez Y.C., Rodriguez A.J., Mateus H.E., Jiménez K.M., et al. Next generation sequencing in women affected by non-syndromic premature ovarian failure displays new potential causative genes and mutations. Fertil. Steril 2015, In press. 10.1016/j.fertnstert.2015.04.016.
78. Forbes A., Lehmann R. Nanos and Pumilio have critical roles in the development and function of Drosophila germline stem cells. Development 1998, 125:679-690.
79. Fortin J., Boehm U., Deng C.-X., Treier M., Bernard D.J. Follicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2. FASEB J. 2014, 28:3396-3410.
80. Fredriksson R., Lagerström M.C., Lundin L.-G., Schiöth H.B. The G-protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups, and fingerprints. Mol. Pharmacol 2003, 63:1256-1272.
81. Galloway S.M., McNatty K.P., Cambridge L.M., Laitinen M.P., Juengel J.L., Jokiranta T.S., et al. Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nat. Genet 2000, 25:279-283.
82. Gersak K., Harris S.E., Smale W.J., Shelling A.N. A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report. Hum. Reprod 2004, 19:2767-2770.
83. Ghochani Y., Saini J.K., Mellon P.L., Thackray V.G. FOXL2 is involved in the synergy between activin and progestins on the follicle-stimulating hormone β-subunit promoter. Endocrinology 2012, 153:2023-2033.
84. Gibson G. Rare and common variants: twenty arguments. Nat. Rev. Genet 2012, 13:135-145.
85. Gnirke A., Melnikov A., Maguire J., Rogov P., LeProust E.M., Brockman W., et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat. Biotechnol 2009, 27:182-189.
86. Goswami D., Conway G.S. Premature ovarian failure. Hum. Reprod. Update 2005, 11:391-410.
87. Green E.D., Guyer M.S. Charting a course for genomic medicine from base pairs to bedside. Nature 2011, 470:204-213.
88. Guttmacher A.E., Collins F.S. Genomic medicine - a primer. N. Engl. J. Med 2002, 347:1512-1520.
89. Hanley N.A., Ball S.G., Clement-Jones M., Hagan D.M., Strachan T., Lindsay S., et al. Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. Mech. Dev 1999, 87:175-180.
90. Hanrahan J.P., Gregan S.M., Mulsant P., Mullen M., Davis G.H., Powell R., et al. Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovis aries). Biol. Reprod 2004, 70:900-909.
91. Harris S.E., Chand A.L., Winship I.M., Gersak K., Aittomäki K., Shelling A.N. Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol. Hum. Reprod 2002, 8:729-733.
92. Hashimoto O., Moore R.K., Shimasaki S. Posttranslational processing of mouse and human BMP-15: potential implication in the determination of ovulation quota. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:5426-5431.
93. Hodges E., Xuan Z., Balija V., Kramer M., Molla M.N., Smith S.W., et al. Genome-wide in situ exon capture for selective resequencing. Nat. Genet 2007, 39:1522-1527.
94. Hoivik E.A., Lewis A.E., Aumo L., Bakke M. Molecular aspects of steroidogenic factor 1 (SF-1). Mol. Cell. Endocrinol 2010, 315:27-39.
95. Hu W., Gauthier L., Baibakov B., Jimenez-Movilla M., Dean J. FIGLA, a basic helix-loop-helix transcription factor, balances sexually dimorphic gene expression in postnatal oocytes. Mol. Cell. Biol 2010, 30:3661-3671.
96. Huntriss J., Gosden R., Hinkins M., Oliver B., Miller D., Rutherford A.J., et al. Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes. Mol. Hum. Reprod 2002, 8:1087-1095.
97. Huntriss J., Hinkins M., Picton H.M. cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles. Mol. Hum. Reprod 2006, 12:283-289.
98. Ikeda Y., Shen W.H., Ingraham H.A., Parker K.L. Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases. Mol. Endocrinol 1994, 8:654-662.
99. Jackson B.C., Carpenter C., Nebert D.W., Vasiliou V. Update of human and mouse forkhead box (FOX) gene families. Hum. Genomics 2010, 4:345-352.
100. Jagarlamudi K., Rajkovic A. Oogenesis: transcriptional regulators and mouse models. Mol. Cell. Endocrinol 2012, 356:31-39.
101. Jagarlamudi K., Reddy P., Adhikari D., Liu K. Genetically modified mouse models for premature ovarian failure (POF). Mol. Cell. Endocrinol 2010, 315:1-10.
102. Janse F., de With L.M., Duran K.J., Kloosterman W.P., Goverde A.J., Lambalk C.B., et al. Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI). Fertil. Steril 2012, 97. 141-6.e2.
103. Jeyasuria P., Ikeda Y., Jamin S.P., Zhao L., De Rooij D.G., Themmen A.P.N., et al. Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function. Mol. Endocrinol 2004, 18:1610-1619.
104. Jiang M., Aittomäki K., Nilsson C., Pakarinen P., Iitiä A., Torresani T., et al. The frequency of an inactivating point mutation (566C→T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. J. Clin. Endocrinol. Metab 1998, 83:4338-4343.
105. Jiao X., Qin Y., Li G., Zhao S., You L., Ma J., et al. Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups. PLoS ONE 2013, 8. e74759.
106. Jones S. An overview of the basic helix-loop-helix proteins. Genome Biol 2004, 5:226.
107. Joshi S., Davies H., Sims L.P., Levy S.E., Dean J. Ovarian gene expression in the absence of FIGLA, an oocyte-specific transcription factor. BMC Dev. Biol 2007, 7:67.
108. Juengel J.L., McNatty K.P. The role of proteins of the transforming growth factor-beta superfamily in the intraovarian regulation of follicular development. Hum. Reprod. Update 2005, 11:143-160.
109. Justice N.J., Blount A.L., Pelosi E., Schlessinger D., Vale W., Bilezikjian L.M. Impaired FSHbeta expression in the pituitaries of Foxl2 mutant animals. Mol. Endocrinol 2011, 25:1404-1415.
110. Kiezun A., Garimella K., Do R., Stitziel N.O., Neale B.M., McLaren P.J., et al. Exome sequencing and the genetic basis of complex traits. Nat. Genet 2012, 44:623-630.
111. Knight P.G., Glister C. Potential local regulatory functions of inhibins, activins and follistatin in the ovary. Reproduction 2001, 121:503-512.
112. Kobayashi S., Yamada M., Asaoka M., Kitamura T. Essential role of the posterior morphogen nanos for germline development in Drosophila. Nature 1996, 380:708-711.
113. Koboldt D.C., Steinberg K.M., Larson D.E., Wilson R.K., Mardis E.R. The next-generation sequencing revolution and its impact on genomics. Cell 2013, 155:27-38.
114. Kryukov G., Pennacchio L.A., Sunyaev S.R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet 2007, 80:727-739.
115. Kuechler A., Hauffa B.P., Köninger A., Kleinau G., Albrecht B., Horsthemke B., et al. An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance. Eur. J. Hum. Genet 2010, 18:656-661.
116. Lacombe A., Lee H., Zahed L., Choucair M., Muller J.-M., Nelson S.F., et al. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am. J. Hum. Genet 2006, 79:113-119.
117. Lai F., King M.L. Repressive translational control in germ cells. Mol. Reprod. Dev 2013, 80:665-676.
118. Laissue P., Vinci G., Veitia R.A., Fellous M. Recent advances in the study of genes involved in non-syndromic premature ovarian failure. Mol. Cell. Endocrinol 2008, 282:101-111.
119. Laissue P., Lakhal B., Benayoun B.A., Dipietromaria A., Braham R., Elghezal H., et al. Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. J. Med. Genet 2009, 46:455-457.
120. Laissue P., L'hôte D., Serres C., Vaiman D. Mouse models for identifying genes modulating fertility parameters. Animal 2009, 3:55-71.
121. Laissue P., Burgio G., L'Hôte D., Renault G., Marchiol-Fournigault C., Fradelizi D., et al. Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography. Int. J. Dev. Biol 2009, 53:623-629.
122. Lakhal B., Laissue P., Braham R., Elghezal H., Saâd A., Fellous M., et al. A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure. Clin. Endocrinol. (Oxf) 2009, 71:752-753.
123. Lakhal B., Laissue P., Braham R., Elghezal H., Saâd A., Fellous M., et al. BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?. Clin. Endocrinol. (Oxf) 2010, 72:425-426.
124. Lakhal B., Ben-Hadj-Khalifa S., Bouali N., Braham R., Hatem E., Saad A. Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure. Gene 2012, 509:298-301.
125. Lalli E., Doghman M., Latre de Late P., El Wakil A., Mus-Veteau I. Beyond steroidogenesis: novel target genes for SF-1 discovered by genomics. Mol. Cell. Endocrinol 2013, 371:154-159.
126. Lam E.W.-F., Brosens J.J., Gomes A.R., Koo C.-Y. Forkhead box proteins: tuning forks for transcriptional harmony. Nat. Rev. Cancer 2013, 13:482-495.
127. Lamba P., Wang Y., Tran S., Ouspenskaia T., Libasci V., Hébert T.E., et al. Activin A regulates porcine follicle-stimulating hormone beta-subunit transcription via cooperative actions of SMADs and FOXL2. Endocrinology 2010, 151:5456-5467.
128. Lander E.S., Linton L.M., Birren B., Nusbaum C., Zody M.C., Baldwin J., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409:860-921.
129. Lange L.A., Hu Y., Zhang H., Xue C., Schmidt E.M., Tang Z.-Z., et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am. J. Hum. Genet 2014, 94:233-245.
130. LaPolt P.S., Oikawa M., Jia X.C., Dargan C., Hsueh A.J. Gonadotropin-induced up- and down-regulation of rat ovarian LH receptor message levels during follicular growth, ovulation and luteinization. Endocrinology 1990, 126:3277-3279.
131. Latronico A.C., Anasti J., Arnhold I.J., Rapaport R., Mendonca B.B., Bloise W., et al. Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N. Engl. J. Med 1996, 334:507-512.
132. Latronico A.C., Chai Y., Arnhold I.J., Liu X., Mendonca B.B., Segaloff D.L. A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor. Mol. Endocrinol 1998, 12:442-450.
133. Layman L.C., Amde S., Cohen D.P., Jin M., Xie J. The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil. Steril 1998, 69:300-302.
134. Lechowska A., Bilinski S., Choi Y., Shin Y., Kloc M., Rajkovic A. Premature ovarian failure in nobox-deficient mice is caused by defects in somatic cell invasion and germ cell cyst breakdown. J. Assist. Reprod. Genet 2011, 28:583-589.
135. Lei Z.M., Mishra S., Zou W., Xu B., Foltz M., Li X., et al. Targeted disruption of luteinizing hormone/human chorionic gonadotropin receptor gene. Mol. Endocrinol 2001, 15:184-200.
136. L'Hôte D., Serres C., Laissue P., Oulmouden A., Rogel-Gaillard C., Montagutelli X., et al. Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice. Genetics 2007, 176:1907-1921.
137. L'Hôte D., Laissue P., Serres C., Montagutelli X., Veitia R.A., Vaiman D. Interspecific resources: a major tool for quantitative trait locus cloning and speciation research. Bioessays 2010, 32:132-142.
138. Liang L., Soyal S.M., Dean J. FIGalpha, a germ cell specific transcription factor involved in the coordinate expression of the zona pellucida genes. Development 1997, 124:4939-4947.
139. Lin L., Achermann J.C. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex. Dev 2008, 2:200-209.
140. Liu J.Y., Gromoll J., Cedars M.I., La Barbera A.R. Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea. Fertil. Steril 1998, 70:326-331.
141. Llano E., Gomez-H L., García-Tuñón I., Sánchez-Martín M., Caburet S., Barbero J.L., et al. STAG3 is a strong candidate gene for male infertility. Hum. Mol. Genet 2014, 23:3421-3431.
142. Lourenço D., Brauner R., Lin L., De Perdigo A., Weryha G., Muresan M., et al. Mutations in NR5A1 associated with ovarian insufficiency. N. Engl. J. Med 2009, 360:1200-1210.
143. Luborsky J.L., Meyer P., Sowers M.F., Gold E.B., Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum. Reprod 2003, 18:199-206.
144. Luo X., Ikeda Y., Parker K.L. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994, 77:481-490.
145. MacQuarrie K.L., Fong A.P., Morse R.H., Tapscott S.J. Genome-wide transcription factor binding: beyond direct target regulation. Trends Genet 2011, 27:141-148.
146. Maher B. Personal genomes: the case of the missing heritability. Nature 2008, 456:18-21.
147. Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J., et al. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
148. Marozzi A., Manfredini E., Tibiletti M.G., Furlan D., Villa N., Vegetti W., et al. Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. Hum. Genet 2000, 107:304-311.
149. Massagué J. TGF-beta signal transduction. Annu. Rev. Biochem 1998, 67:753-791.
150. Massagué J. TGFβ signalling in context. Nat. Rev. Mol. Cell Biol 2012, 13:616-630.
151. Massagué J., Seoane J., Wotton D. Smad transcription factors. Genes Dev 2005, 19:2783-2810.
152. Massari M.E., Murre C. Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms. Mol. Cell. Biol 2000, 20:429-440.
153. Matzuk M.M., Burns K.H. Genetics of mammalian reproduction: modeling the end of the germline. Annu. Rev. Physiol 2012, 74:503-528.
154. Matzuk M.M., Lamb D.J. Genetic dissection of mammalian fertility pathways. Nat. Cell Biol 2002, 4(Suppl.):s41-s49.
155. Matzuk M.M., Lamb D.J. The biology of infertility: research advances and clinical challenges. Nat. Med 2008, 14:1197-1213.
156. McCabe E.R.B. DAX1: increasing complexity in the roles of this novel nuclear receptor. Mol. Cell. Endocrinol 2007, 265-266:179-182.
157. Meduri G., Touraine P., Beau I., Lahuna O., Desroches A., Vacher-Lavenu M.C., et al. Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. J. Clin. Endocrinol. Metab 2003, 88:3491-3498.
158. Mehta G.D., Kumar R., Srivastava S., Ghosh S.K. Cohesin: functions beyond sister chromatid cohesion. FEBS Lett 2013, 587:2299-2312.
159. Mendelson C.R., Kamat A. Mechanisms in the regulation of aromatase in developing ovary and placenta. J. Steroid Biochem. Mol. Biol 2007, 106:62-70.
160. Menon K.M.J., Menon B. Structure, function and regulation of gonadotropin receptors - a perspective. Mol. Cell. Endocrinol 2012, 356:88-97.
161. Messinis I.E. Ovarian feedback, mechanism of action and possible clinical implications. Hum. Reprod. Update 2006, 12:557-571.
162. Messinis I.E., Messini C.I., Dafopoulos K. Novel aspects of the endocrinology of the menstrual cycle. Reprod. Biomed. Online 2014, 28:714-722.
163. Młynarczuk J., Rekawiecki R. The role of the orphan receptor SF-1 in the development and function of the ovary. Reprod. Biol 2010, 10:177-193.
164. Moore R.K., Shimasaki S. Molecular biology and physiological role of the oocyte factor, BMP-15. Mol. Cell. Endocrinol 2005, 234:67-73.
165. Morton N.E. Sequential tests for the detection of linkage. Am. J. Hum. Genet 1955, 7:277-318.
166. Moumné L., Dipietromaria A., Batista F., Kocer A., Fellous M., Pailhoux E., et al. Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development. Hum. Mol. Genet 2008, 17:1010-1019.
167. Murray A., Webb J., Grimley S., Conway G., Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet 1998, 35:637-640.
168. Murray A., Webb J., Dennis N., Conway G., Morton N. Microdeletions in FMR2 may be a significant cause of premature ovarian failure. J. Med. Genet 1999, 36:767-770.
169. Nelson L.M. Clinical practice. Primary ovarian insufficiency. N. Engl. J. Med 2009, 360:606-614.
170. Oba K., Yanase T., Nomura M., Morohashi K., Takayanagi R., Nawata H. Structural characterization of human Ad4bp (SF-1) gene. Biochem. Biophys. Res. Commun 1996, 226:261-267.
171. Ortega-Recalde O., Vergara J.I., Fonseca D.J., Ríos X., Mosquera H., Bermúdez O.M., et al. Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. PLoS ONE 2013, 8. e64692.
172. Otsuka F. Multiple endocrine regulation by bone morphogenetic protein system. Endocr. J. 2010, 57:3-14.
173. Pannetier M., Servel N., Cocquet J., Besnard N., Cotinot C., Pailhoux E. Expression studies of the PIS-regulated genes suggest different mechanisms of sex determination within mammals. Cytogenet. Genome Res 2003, 101:199-205.
174. Patiño L.C., Battu R., Ortega-Recalde O., Nallathambi J., Anandula V.R., Renukaradhya U., et al. Exome sequencing is an efficient tool for variant late- infantile neuronal ceroid lipofuscinosis molecular diagnosis. PLoS ONE 2014, 9:3-7.
175. Peegel H., Randolph J., Midgley A.R., Menon K.M. In situ hybridization of luteinizing hormone/human chorionic gonadotropin receptor messenger ribonucleic acid during hormone-induced down-regulation and the subsequent recovery in rat corpus luteum. Endocrinology 1994, 135:1044-1051.
176. Pelusi C., Ikeda Y., Zubair M., Parker K.L. Impaired follicle development and infertility in female mice lacking steroidogenic factor 1 in ovarian granulosa cells. Biol. Reprod 2008, 79:1074-1083.
177. Peng J., Li Q., Wigglesworth K., Rangarajan A., Kattamuri C., Peterson R.T., et al. Growth differentiation factor 9:bone morphogenetic protein 15 heterodimers are potent regulators of ovarian functions. Proc. Natl. Acad. Sci. U.S.A. 2013, 110:E776-E785.
178. Persani L., Rossetti R., Cacciatore C. Genes involved in human premature ovarian failure. J. Mol. Endocrinol 2010, 45:257-279.
179. Persani L., Rossetti R., Cacciatore C., Fabre S. Genetic defects of ovarian TGF-β-like factors and premature ovarian failure. J. Endocrinol. Invest 2011, 34:244-251.
180. Persani L., Rossetti R., Di Pasquale E., Cacciatore C., Fabre S. The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. Hum. Reprod. Update 2014, 20:869-883.
181. Philibert P., Paris F., Lakhal B., Audran F., Gaspari L., Saâd A., et al. NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency. Fertil. Steril 2013, 99:484-489.
182. Plant T.M. Hypothalamic control of the pituitary-gonadal axis in higher primates: key advances over the last two decades. J. Neuroendocrinol 2008, 20:719-726.
183. Powell C.M., Taggart R.T., Drumheller T.C., Wangsa D., Qian C., Nelson L.M., et al. Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. Am. J. Med. Genet 1994, 52:19-26.
184. Pritchard J.K., Cox N.J. The allelic architecture of human disease genes: common disease-common variant. . .or not?. Hum. Mol. Genet 2002, 11:2417-2423.
185. Puett D., Li Y., DeMars G., Angelova K., Fanelli F. A functional transmembrane complex: the luteinizing hormone receptor with bound ligand and G protein. Mol. Cell. Endocrinol 2007, 260-262:126-136.
186. Qiao J., Han B., Liu B.-L., Chen X., Ru Y., Cheng K.-X., et al. A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. Hum. Mutat 2009, 30:E855-E865.
187. Qin Y., Choi Y., Zhao H., Simpson J.L., Chen Z.-J., Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am. J. Hum. Genet 2007, 81:576-581.
188. Qin Y., Shi Y., Zhao Y., Carson S.A., Simpson J.L., Chen Z.-J. Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure. Fertil. Steril 2009, 91:1507-1509.
189. Rajkovic A., Pangas S.A., Ballow D., Suzumori N., Matzuk M.M. NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science 2004, 305:1157-1159.
190. Rannikko A., Pakarinen P., Manna P.R., Beau I., Misrahi M., Aittomäki K., et al. Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation. Mol. Hum. Reprod 2002, 8:311-317.
191. Rehm H.L. Disease-targeted sequencing: a cornerstone in the clinic. Nat. Rev. Genet 2013, 14:295-300.
192. Ro S.-H., Liu D., Yeo H., Paik J. FoxOs in neural stem cell fate decision. Arch. Biochem. Biophys 2013, 534:55-63.
193. Robasky K., Lewis N.E., Church G.M. The role of replicates for error mitigation in next-generation sequencing. Nat. Rev. Genet 2014, 15:56-62.
194. Rosario R., Cohen P.A., Shelling A.N. The role of FOXL2 in the pathogenesis of adult ovarian granulosa cell tumours. Gynecol. Oncol 2014, 133:382-387.
195. Ross J.S., Cronin M. Whole cancer genome sequencing by next-generation methods. Am. J. Clin. Pathol 2011, 136:527-539.
196. Rossetti R., Di Pasquale E., Marozzi A., Bione S., Toniolo D., Grammatico P., et al. BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum. Mutat 2009, 30:804-810.
197. Roy A., Matzuk M.M. Deconstructing mammalian reproduction: using knockouts to define fertility pathways. Reproduction 2006, 131:207-219.
198. Roybal L.L., Hambarchyan A., Meadows J.D., Barakat N.H., Pepa P.A., Breen K.M., et al. Roles of binding elements, FOXL2 domains, and interactions with cJUN and SMADs in regulation of FSHβ. Mol. Endocrinol 2014, 28:1640-1655.
199. Sadovsky Y., Crawford P.A., Woodson K.G., Polish J.A., Clements M.A., Tourtellotte L.M., et al. Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids. Proc. Natl. Acad. Sci. U.S.A. 1995, 92:10939-10943.
200. Sanchez A.M.J., Candau R.B., Bernardi H. FoxO transcription factors: their roles in the maintenance of skeletal muscle homeostasis. Cell. Mol. Life Sci 2014, 71:1657-1671.
201. Santoro N. Update in hyper- and hypogonadotropic amenorrhea. J. Clin. Endocrinol. Metab 2011, 96:3281-3288.
202. Santos M.G., Machado A.Z., Martins C.N., Domenice S., Costa E.M.F., Nishi M.Y., et al. Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency. Biomed Res. Int 2014, 2014. 787465.
203. Schimmer B.P., White P.C. Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease. Mol. Endocrinol 2010, 24:1322-1337.
204. Schmidt D., Ovitt C.E., Anlag K., Fehsenfeld S., Gredsted L., Treier A.-C., et al. The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. Development 2004, 131:933-942.
205. Shah S.P., Köbel M., Senz J., Morin R.D., Clarke B.A., Wiegand K.C., et al. Mutation of FOXL2 in granulosa-cell tumors of the ovary. N. Engl. J. Med 2009, 360:2719-2729.
206. Shendure J., Ji H. Next-generation DNA sequencing. Nat. Biotechnol 2008, 26:1135-1145.
207. Sherman S.L. Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet 2000, 97:189-194.
208. Shimasaki S., Moore R.K., Otsuka F., Erickson G.F. The bone morphogenetic protein system in mammalian reproduction. Endocr. Rev 2004, 25:72-101.
209. Shyr D., Liu Q. Next generation sequencing in cancer research and clinical application. Biol. Proced. Online 2013, 15:4.
210. Siegel E.T., Kim H.-G., Nishimoto H.K., Layman L.C. The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models. Reprod. Sci 2013, 20:211-233.
211. Smith S., Pfeifer S.M., Collins J.A. Diagnosis and management of female infertility. JAMA 2003, 290:1767-1770.
212. Sonoda J., Wharton R.P. Drosophila brain tumor is a translational repressor. Genes Dev 2001, 15:762-773.
213. Soyal S.M., Amleh A., Dean J. FIGalpha, a germ cell-specific transcription factor required for ovarian follicle formation. Development 2000, 127:4645-4654.
214. Stavrou S.S., Zhu Y.S., Cai L.Q., Katz M.D., Herrera C., Defillo-Ricart M., et al. A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. J. Clin. Endocrinol. Metab 1998, 83:2091-2098.
215. Sundblad V., Chiauzzi V.A., Escobar M.E., Dain L., Charreau E.H. Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF). Mol. Cell. Endocrinol 2004, 222:53-59.
216. Suwanai A.S., Ishii T., Haruna H., Yamataka A., Narumi S., Fukuzawa R., et al. A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression. Clin. Endocrinol. (Oxf) 2013, 78:957-965.
217. Suzuki A., Saga Y. Nanos2 suppresses meiosis and promotes male germ cell differentiation. Genes Dev 2008, 22:430-435.
218. Suzuki H., Tsuda M., Kiso M., Saga Y. Nanos3 maintains the germ cell lineage in the mouse by suppressing both Bax-dependent and -independent apoptotic pathways. Dev. Biol 2008, 318:133-142.
219. Suzumori N., Yan C., Matzuk M.M., Rajkovic A. Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes. Mech. Dev 2002, 111:137-141.
220. Taketo M., Parker K.L., Howard T.A., Tsukiyama T., Wong M., Niwa O., et al. Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33. Genomics 1995, 25:565-567.
221. Tan Z.-P., Xie L., Deng Y., Chen J.-L., Zhang W.-Z., Wang J., et al. Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death. Sci. Rep 2014, 4:5616.
222. Tharapel A.T., Anderson K.P., Simpson J.L., Martens P.R., Wilroy R.S., Llerena J.C., et al. Deletion (X)(q26.1→q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. Am. J. Hum. Genet 1993, 52:463-471.
223. Timmreck L.S., Reindollar R.H. Contemporary issues in primary amenorrhea. Obstet. Gynecol. Clin. North Am 2003, 30:287-302.
224. Tobet S.A., Schwarting G.A. Minireview: recent progress in gonadotropin-releasing hormone neuronal migration. Endocrinology 2006, 147:1159-1165.
225. Todeschini A.-L., Dipietromaria A., L'hôte D., Boucham F.Z., Georges A.B., Pandaranayaka P.J.E., et al. Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations. Hum. Mol. Genet 2011, 20:3376-3385.
226. Toledo S.P., Brunner H.G., Kraaij R., Post M., Dahia P.L., Hayashida C.Y., et al. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J. Clin. Endocrinol. Metab 1996, 81:3850-3854.
227. Touraine P., Beau I., Gougeon A., Meduri G., Desroches A., Pichard C., et al. New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol. Endocrinol 1999, 13:1844-1854.
228. Tran S., Lamba P., Wang Y., Bernard D.J. SMADs and FOXL2 synergistically regulate murine FSHbeta transcription via a conserved proximal promoter element. Mol. Endocrinol 2011, 25:1170-1183.
229. Tran S., Zhou X., Lafleur C., Calderon M.J., Ellsworth B.S., Kimmins S., et al. Impaired fertility and FSH synthesis in gonadotrope-specific Foxl2 knockout mice. Mol. Endocrinol 2013, 27:407-421.
230. Tsuda M., Sasaoka Y., Kiso M., Abe K., Haraguchi S., Kobayashi S., et al. Conserved role of nanos proteins in germ cell development. Science 2003, 301:1239-1241.
231. Uda M., Ottolenghi C., Crisponi L., Garcia J.E., Deiana M., Kimber W., et al. Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum. Mol. Genet 2004, 13:1171-1181.
232. Uhlenhaut N.H., Treier M. Forkhead transcription factors in ovarian function. Reproduction 2011, 142:489-495.
233. Vaquerizas J.M., Kummerfeld S.K., Teichmann S.A., Luscombe N.M. A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet 2009, 10:252-263.
234. Vassart G., Pardo L., Costagliola S. A molecular dissection of the glycoprotein hormone receptors. Trends Biochem. Sci 2004, 29:119-126.
235. Vatin M., Burgio G., Renault G., Laissue P., Firlej V., Mondon F., et al. Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death. PLoS ONE 2012, 7. e43356.
236. Vatin M., Bouvier S., Bellazi L., Montagutelli X., Laissue P., Ziyyat A., et al. Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss. Am. J. Pathol 2014, 184:362-368.
237. Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., et al. The sequence of the human genome. Science 2001, 291:1304-1351.
238. Verdin H., De Baere E. FOXL2 impairment in human disease. Horm. Res. Paediatr 2012, 77:2-11.
239. Visscher P.M., Brown M.A., McCarthy M.I., Yang J. Five years of GWAS discovery. Am. J. Hum. Genet 2012, 90:7-24.
240. Voican A., Bachelot A., Bouligand J., Francou B., Dulon J., Lombès M., et al. NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency. J. Clin. Endocrinol. Metab 2013, 98:E1017-E1021.
241. Wang B., Wen Q., Ni F., Zhou S., Wang J., Cao Y., et al. Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure. Clin. Endocrinol. (Oxf) 2010, 72:135-136.
242. Wang C., Lehmann R. Nanos is the localized posterior determinant in Drosophila. Cell 1991, 66:637-647.
243. Wang X., McLachlan J., Zamore P.D., Hall T.M.T. Modular recognition of RNA by a human pumilio-homology domain. Cell 2002, 110:501-512.
244. Wang Z., Lin H. Nanos maintains germline stem cell self-renewal by preventing differentiation. Science 2004, 303:2016-2019.
245. Weigel D., Jäckle H. The fork head domain: a novel DNA binding motif of eukaryotic transcription factors?. Cell 1990, 63:455-456.
246. Weigel D., Jürgens G., Küttner F., Seifert E., Jäckle H. The homeotic gene fork head encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo. Cell 1989, 57:645-658.
247. Weiss A., Attisano L. The TGFbeta superfamily signaling pathway. Wiley Interdiscip. Rev. Dev. Biol 2013, 2:47-63.
248. White E.K., Moore-Jarrett T., Ruley H.E. PUM2, a novel murine puf protein, and its consensus RNA-binding site. RNA 2001, 7:1855-1866.
249. Whitney E.A., Layman L.C., Chan P.J., Lee A., Peak D.B., McDonough P.G. The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls. Fertil. Steril 1995, 64:518-524.
250. Woods S.A., Robinson H.B., Kohler L.J., Agamanolis D., Sterbenz G., Khalifa M. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. Am. J. Med. Genet. A 2014, 164A:251-258.
251. Wu X., Wang B., Dong Z., Zhou S., Liu Z., Shi G., et al. A NANOS3 mutation linked to protein degradation causes premature ovarian insufficiency. Cell Death Dis 2013, 4:e825.
252. Yan C., Wang P., DeMayo J., DeMayo F.J., Elvin J.A., Carino C., et al. Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function. Mol. Endocrinol 2001, 15:854-866.
253. Zhang F.P., Poutanen M., Wilbertz J., Huhtaniemi I. Normal prenatal but arrested postnatal sexual development of luteinizing hormone receptor knockout (LuRKO) mice. Mol. Endocrinol 2001, 15:172-183.
254. Zhang Y., Li B., Li C., Cai Q., Zheng W., Long J. Improved variant calling accuracy by merging replicates in whole-exome sequencing studies. Biomed Res. Int 2014, 2014. 319534.
255. Zhao H., Chen Z.-J., Qin Y., Shi Y., Wang S., Choi Y., et al. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am. J. Hum. Genet 2008, 82:1342-1348.
256. Zhao X.X., Suzumori N., Yamaguchi M., Suzumori K. Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure. Fertil. Steril 2005, 83:1843-1844.
257. Zimmern R.L., Khoury M.J. The impact of genomics on public health practice: the case for change. Public Health Genomics 2012, 118-124.
258. Zinn A.R., Ross J.L. Turner syndrome and haploinsufficiency. Curr. Opin. Genet. Dev 1998, 8:322-327.
259. Zlotogora J., Sagi M., Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am. J. Hum. Genet 1983, 35:1020-1027.