Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations

Fertility and Sterility

Volumn 103, Issue 5, 2015, Pages 1289-1296.e2

  Moysés Oliveira, Mariana ^a   Guilherme, Roberta Dos Santos ^a,c   Dantas, Anelisa Gollo ^a   Ueta, Renata ^a   Perez, Ana Beatriz ^a   Haidar, Mauro ^a   Canonaco, Rosane ^b   Meloni, Vera Ayres ^a   Kosyakova, Nadezda ^c   Liehr, Thomas ^c   Carvalheira, Gianna Maria ^a   Melaragno, Maria Isabel ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b HOSPITAL DO SERVIDOR PÚBLICO ESTADUAL DE SÃO PAULO   (Brazil)

^c JENA UNIVERSITY HOSPITAL   (Germany)

Author keywords

female fertility; position effect; primary amenorrhea; reciprocal translocation; X chromosome

Indexed keywords

FIBROBLAST GROWTH FACTOR 16; NUCLEAR RECEPTOR DAX 1; DNA BINDING PROTEIN; FGF16 PROTEIN, HUMAN; FHL2 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR; LIM HOMEODOMAIN PROTEIN; MUSCLE PROTEIN; NERVE PROTEIN; TRANSCRIPTION FACTOR; XPN PROTEIN, HUMAN; ZDHHC15 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOME; BALANCED X AUTOSOME TRANSLOCATION; CASE CONTROL STUDY; CASE REPORT; COPY NUMBER VARIATION; FEMALE; FEMALE INFERTILITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE EXPRESSION; GENE LOCUS; GENE SEQUENCE; GENOMICS; GERM LINE; HUMAN; KARYOTYPE; OVARY FUNCTION; POSITION EFFECT; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE STUDY; RETROSPECTIVE STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X CHROMOSOME; AMENORRHEA; CHROMOSOME BREAKAGE; CHROMOSOME PAINTING; COMPARATIVE GENOMIC HYBRIDIZATION; FERTILITY; GENE EXPRESSION REGULATION; GENE TRANSLOCATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; PATHOPHYSIOLOGY; PHENOTYPE; RISK FACTOR;

AMENORRHEA; CHROMOSOME BREAKPOINTS; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; DNA-BINDING PROTEINS; FEMALE; FERTILITY; FIBROBLAST GROWTH FACTORS; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIM-HOMEODOMAIN PROTEINS; MUSCLE PROTEINS; NERVE TISSUE PROTEINS; PHENOTYPE; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RISK FACTORS; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 84929503770     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2015.01.030     Document Type: Article

References (41)

1. G.S. Conway Premature ovarian failure Br Med Bull 56 2000 643 649
2. C.B. Coulam, S.C. Adamson, and J.F. Annegers Incidence of premature ovarian failure Obstet Gynecol 67 1986 604 606
3. D. Goswami, and G.S. Conway Premature ovarian failure Hum Reprod Update 11 2005 391 410
4. E.B. Cordts, D.M. Christofolini, A.A. Dos Santos, B. Bianco, and C.P. Barbosa Genetic aspects of premature ovarian failure: a literature review Arch Gynecol Obstet 283 2011 635 643
5. L. Persani, R. Rossetti, and C. Cacciatore Genes involved in human premature ovarian failure J Mol Endocrinol 45 2010 257 279
6. C. Sala, G. Arrigo, G. Torri, F. Martinazzi, P. Riva, and L. Larizza Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21 Genomics 40 1997 123 131
7. S.L. Sherman Premature ovarian failure in the fragile X syndrome Am J Med Genet 97 2000 189 194
8. M. Schmidt, and D. Du Sart Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases Am J Med Genet 42 1992 161 169
9. E. Therman, R. Laxova, and B. Susman The critical region on the human Xq Hum Genet 85 1990 455 461
10. B. Kalz-Fuller, E. Sleegers, G. Schwanitz, and R. Schubert Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations Clin Genet 55 1999 362 366
11. V. Cantagrel, A.M. Lossi, S. Boulanger, D. Depetris, M.G. Mattei, and J. Gecz Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males J Med Genet 41 2004 736 742
12. V.M. Kalscheuer, J. Tao, A. Donnelly, G. Hollway, E. Schwinger, and S. Kubart Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation Am J Hum Genet 72 2003 1401 1411
13. J. Najm, D. Horn, I. Wimplinger, J.A. Golden, V.V. Chizhikov, and J. Sudi Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum Nat Genet 40 2008 1065 1067
14. G.E. Sarto, E. Therman, and K. Patau X inactivation in man: a woman with t(Xq-;12q+) Am J Hum Genet 25 1973 262 270
15. F. Rizzolio, S. Bione, C. Sala, M. Goegan, M. Gentile, and G. Gregato Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature Hum Reprod 21 2006 1477 1483
16. D. Schlessinger, L. Herrera, L. Crisponi, S. Mumm, A. Percesepe, and M. Pellegrini Genes and translocations involved in POF Am J Med Genet 111 2002 328 333
17. S. Mumm, L. Herrera, P.W. Waeltz, A. Scardovi, R. Nagaraja, and T. Esposito X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes Genomics 76 2001 30 36
18. M.F. Portnoi, A. Aboura, G. Tachdjian, P. Bouchard, D. Dewailly, and N. Bourcigaux Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients Hum Reprod 21 2006 2329 2334
19. S. Baronchelli, N. Villa, S. Redaelli, S. Lissoni, F. Saccheri, and E. Panzeri Investigating the role of X chromosome breakpoints in premature ovarian failure Mol Cytogenet 5 2012 32
20. F. Rizzolio, T. Pramparo, C. Sala, O. Zuffardi, L. De Santis, and E. Rabellotti Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome J Med Genet 46 2009 585 592
21. F. Rizzolio, C. Sala, S. Alboresi, S. Bione, S. Gilli, and M. Goegan Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis Hum Genet 121 2007 441 450
22. T. Liehr, A. Heller, H. Starke, N. Rubtsov, V. Trifonov, and K. Mrasek Microdissection based high resolution multicolor banding for all 24 human chromosomes Int J Mol Med 9 2002 335 339
23. L. Backx, H. Van Esch, C. Melotte, N. Kosyakova, H. Starke, and J.P. Frijns Array painting using microdissected chromosomes to map chromosomal breakpoints Cytogenet Genome Res 116 2007 158 166
24. A. Weise, K. Mrasek, I. Fickelscher, U. Claussen, S.W. Cheung, and W.W. Cai Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set J Histochem Cytochem 56 2008 487 493
25. A.F. de Carvalho, F.T. da Silva Bellucco, L.D. Kulikowski, M.B. Toralles, and M.I. Melaragno Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation Hum Genet 124 2008 387 392
26. N. Kosyakova, A. Grigorian, T. Liehr, M. Manvelyan, I. Simonyan, and H. Mkrtchyan Heteromorphic variants of chromosome 9 Mol Cytogenet 6 2013 14
27. M.E. Talkowski, C. Ernst, A. Heilbut, C. Chiang, C. Hanscom, and A. Lindgren Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research Am J Hum Genet 88 2011 469 481
28. S.M. Gribble, D. Kalaitzopoulos, D.C. Burford, E. Prigmore, R.R. Selzer, and B.L. Ng Ultra-high resolution array painting facilitates breakpoint sequencing J Med Genet 44 2007 51 58
29. J.J. Waters, P.L. Campbell, A.J. Crocker, and C.M. Campbell Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories Hum Genet 108 2001 318 327
30. T. Magome, T. Hattori, M. Taniguchi, T. Ishikawa, S. Miyata, and K. Yamada XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration Neurochem Int 63 2013 561 569
31. L. Van Maldergem, Q. Hou, V.M. Kalscheuer, M. Rio, M. Doco-Fenzy, and A. Medeira Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth Hum Mol Genet 22 2013 3306 3314
32. F.B. Young, S.L. Butland, S.S. Sanders, L.M. Sutton, and M.R. Hayden Putting proteins in their place: palmitoylation in Huntington disease and other neuropsychiatric diseases Prog Neurobiol 97 2012 220 238
33. M.R. Mansouri, L. Marklund, P. Gustavsson, E. Davey, B. Carlsson, and C. Larsson Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation Eur J Hum Genet 13 2005 970 977
34. A. Piton, C. Redin, and J.L. Mandel XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing Am J Hum Genet 93 2013 368 383
35. T.E. Dudding, O. Lawrence, I. Winship, G. Froyen, J. Vandewalle, and R. Scott Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure Hum Reprod 25 2010 3159 3160 author reply 60-1
36. M. Forconi, A. Canapa, M. Barucca, M.A. Biscotti, T. Capriglione, and F. Buonocore Characterization of sex determination and sex differentiation genes in Latimeria PLoS One 8 2013 e56006
37. Y.L. Sun, S. Zeng, K. Ye, C. Yang, M.H. Li, and B.F. Huang Involvement of FGF9/16/20 subfamily in female germ cell development of the Nile tilapia, Oreochromis niloticus Fish Physiol Biochem 38 2012 1427 1439
38. N. Ahituv, S. Prabhakar, F. Poulin, E.M. Rubin, and O. Couronne Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny Hum Mol Genet 14 2005 3057 3063
39. H. Kikuta, M. Laplante, P. Navratilova, A.Z. Komisarczuk, P.G. Engstrom, and D. Fredman Genomic regulatory blocks encompass multiple neighboring genes and maintain conserved synteny in vertebrates Genome Res 17 2007 545 555
40. C.K. Matulis, and K.E. Mayo The LIM domain protein FHL2 interacts with the NR5A family of nuclear receptors and CREB to activate the inhibin-alpha subunit gene in ovarian granulosa cells Mol Endocrinol 26 2012 1278 1290
41. X. Du, P. Hublitz, T. Gunther, D. Wilhelm, C. Englert, and R. Schule The LIM-only coactivator FHL2 modulates WT1 transcriptional activity during gonadal differentiation Biochim Biophys Acta 1577 2002 93 101