Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure

Fertility and Sterility

Volumn 85, Issue 5, 2006, Pages 1502-1507

  Hui, Emily S ^a   Udofa, Ekemini A ^a   Soto, Jackeline ^a   Vanderhoof, Vien H ^a   Zachman, Keith ^b   Tong, Zhi Bin ^a   Nelson, Lawrence M ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

gene mutation; kit ligand; KITLG; polymorphism; Spontaneous premature ovarian failure

Indexed keywords

AMINO ACID; SINGLE STRANDED DNA; STEM CELL FACTOR; TYROSINE KINASE RECEPTOR;

ADOLESCENT; ADULT; AMINO ACID COMPOSITION; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; CLINICAL ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INTRON; KARYOTYPE 46,XX; OUTCOME ASSESSMENT; PATHOPHYSIOLOGY; PREMATURE OVARIAN FAILURE; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

ADOLESCENT; ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MARYLAND; OVARIAN FAILURE, PREMATURE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; RISK ASSESSMENT; STEM CELL FACTOR;

EID: 33646079174     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2005.10.071     Document Type: Article

References (43)

1. Nelson L.M., Covington S.N., and Rebar R.W. An update. spontaneous premature ovarian failure is not an early menopause. Fertil Steril 83 (2005) 1327-1332
2. Coulam C.B., Adamson S.C., and Annegers J.F. Incidence of premature ovarian failure. Obstet Gynecol 67 (1986) 604-606
3. Aittomaki K., Lucena J.L.D., Pakarinen P., Sistonen P., Tapanainen J., Gromoll J., et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82 (1995) 959-968
4. Bondy C.A., Nelson L.M., and Kalantaridou S.N. The genetic origins of ovarian failure. J Womens Health 7 (1998) 1225-1229
5. van Kasteren Y.M., Hundscheid R.D., Smits A.P., Cremers F.P., van Zonneveld P., and Braat D.D. Familial idiopathic premature ovarian failure. an overrated and underestimated genetic disease?. Hum Reprod 14 (1999) 2455-2459
6. Marozzi A., Vegetti W., Manfredini E., Tibiletti M.G., Testa G., Crosignani P.G., et al. Association between idiopathic premature ovarian failure and fragile X premutation. Hum Reprod 15 (2000) 197-202
7. Sherman S.L. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 97 (2000) 189-194
8. Shelling A.N., Burton K.A., Chand A.L., van Ee C.C., France J.T., Farquhar C.M., et al. Inhibin. a candidate gene for premature ovarian failure. Hum Reprod 15 (2000) 2644-2649
9. Vegetti W., Marozzi A., Manfredini E., Testa G., Alagna F., Nicolosi A., et al. Premature ovarian failure. Mol Cell Endocrinol 161 (2000) 53-57
10. 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 27 (2001) 159-166
11. Schlessinger D., Herrera L., Crisponi L., Mumm S., Percesepe A., Pellegrini M., et al. Genes and translocations involved in POF. Am J Med Genet 111 (2002) 328-333
12. Di Pasquale E., Beck-Peccoz P., and Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 75 (2004) 106-111
13. Wylie C. Germ cells. Cell 96 (1999) 165-174
14. Gosden R.G., and Faddy M.J. Biological bases of premature ovarian failure. Reprod Fertil Dev 10 (1998) 73-78
15. Tilly J.L. Commuting the death sentence. how oocytes strive to survive. Nat Rev Mol Cell Biol 2 (2001) 838-848
16. Matsui Y., Toksoz D., Nishikawa S., Nishikawa S., Williams D., Zsebo K., et al. Effect of Steel factor and leukaemia inhibitory factor on murine primordial germ cells in culture. Nature 353 (1991) 750-752
17. Dolci S., Williams D.E., Ernst M.K., Resnick J.L., Brannan C.I., Lock L.F., et al. Requirement for mast cell growth factor for primordial germ cell survival in culture. Nature 352 (1991) 809-811
18. Godin I., Deed R., Cooke J., Zsebo K., Dexter M., and Wylie C.C. Effects of the Steel gene product on mouse primordial germ cells in culture. Nature 352 (1991) 807-809
19. Fleischman R.A., Saltman D.L., Stastny V., and Zneimer S. Deletion of the c-kit protooncogene in the human developmental defect piebald trait. Proc Natl Acad Sci USA 88 (1991) 10885-10889
20. Fleischman R.A. Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. J Clin Invest 89 (1992) 1713-1717
21. Huang E.J., Manova K., Packer A.I., Sanchez S., Bachvarova R.F., and Besmer P. The murine Steel panda mutation affects kit ligand expression and growth of early ovarian follicles. Dev Biol 157 (1993) 100-109
22. Besmer P., Manova K., Duttlinger R., Huang E.J., Packer A., Gyssler C., et al. The kit-ligand (Steel factor) and its receptor c-kit/W. pleiotropic roles in gametogenesis and melanogenesis. Dev Suppl (1993) 125-137
23. Manova K., Huang E.J., Angeles M., De Leon V., Sanchez S., Pronovost S.M., et al. The expression pattern of the c-kit ligand in gonads of mice supports a role for the c-kit receptor in oocyte growth and in proliferation of spermatogonia. Dev Biol 157 (1993) 85-99
24. Packer A.I., Hsu Y.C., Besmer P., and Bachvarova R.F. The ligand of the c-kit receptor promotes oocyte growth. Dev Biol 161 (1994) 194-205
25. Bedell M.A., Brannan C.I., Evans E.P., Copeland N.G., Jenkins N.A., and Donovan P.J. DNA rearrangements located over 100 kb 5′ of the Steel (Sl)-coding region in Steel-panda and Steel-contrasted mice deregulate Sl expression and cause female sterility by disrupting ovarian follicle development. Genes Dev 9 (1995) 455-470
26. Bedell M.A., Copeland N.G., and Jenkins N.A. Multiple pathways for Steel regulation suggested by genomic and sequence analysis of the murine Steel gene. Genetics 142 (1996) 927-934
27. Matous J.V., Langley K., and Kaushansky K. Structure-function relationships of stem cell factor. an analysis based on a series of human-murine stem cell factor chimera and the mapping of a neutralizing monoclonal antibody. Blood 88 (1996) 437-444
28. Parrott J.A., and Skinner M.K. Direct actions of kit-ligand on theca cell growth and differentiation during follicle development. Endocrinology 138 (1997) 3819-3827
29. Longley Jr. B.J., Metcalfe D.D., Tharp M., Wang X., Tyrrell L., Lu S.Z., et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA 96 (1999) 1609-1614
30. Ashman L.K. The biology of stem cell factor and its receptor C-kit. Int J Biochem Cell Biol 31 (1999) 1037-1051
31. Kissel H., Timokhina I., Hardy M.P., Rothschild G., Tajima Y., Soares V., et al. Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses. EMBO J 19 (2000) 1312-1326
32. Driancourt M.A., Reynaud K., Cortvrindt R., and Smitz J. Roles of KIT and KIT LIGAND in ovarian function. Rev Reprod 5 (2000) 143-152
33. Reynaud K., Cortvrindt R., Smitz J., Bernex F., Panthier J.J., and Driancourt M.A. Alterations in ovarian function of mice with reduced amounts of KIT receptor. Reproduction 121 (2001) 229-237
34. Syrris P., Heathcote K., Carrozzo R., Devriendt K., Elcioglu N., Garrett C., et al. Human piebaldism. six novel mutations of the proto-oncogene KIT. Hum Mutat 20 (2002) 234
35. Doneda L., Klinger F.G., Larizza L., and De F.M. KL/KIT co-expression in mouse fetal oocytes. Int J Dev Biol 46 (2002) 1015-1021
36. Mathew S., Murty V.V., Hunziker W., and Chaganti R.S. Subregional mapping of 13 single-copy genes on the long arm of chromosome 12 by fluorescence in situ hybridization. Genomics 14 (1992) 775-779
37. Shibanuma K., Tong Z.B., Vanderhoof V., Vanevski K., and Nelson L. Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure. BMC Womens Health 2 (2002) 8
38. Hongyo T., Buzard G.S., Calvert R.J., and Weghorst C.M. "Cold SSCP". a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses. Nucleic Acids Res 21 (1993) 3637-3642
39. Antonarakis S.E., and Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11 (1998) 1-3
40. Davis C.J., Davison R.M., Payne N.N., Rodeck C.H., and Conway G.S. Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect. opinion. Hum Reprod 15 (2000) 2418-2422
41. Bione S., Sala C., Manzini C., Arrigo G., Zuffardi O., Banfi S., et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure. evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet 62 (1998) 533-541
42. Langley K.E., Mendiaz E.A., Liu N., Narhi L.O., Zeni L., Parseghian C.M., et al. Properties of variant forms of human stem cell factor recombinantly expressed in Escherichia coli. Arch Biochem Biophys 311 (1994) 55-61
43. Jiang X., Gurel O., Mendiaz E.A., Stearns G.W., Clogston C.L., Lu H.S., et al. Structure of the active core of human stem cell factor and analysis of binding to its receptor kit. EMBO J 19 (2000) 3192-3203