X Chromosome Genes and Premature Ovarian Failure

ABSTRACT

Premature ovarian failure (POF) is a disorder characterized by lack of ovulation and elevated levels of serum gonadotropins before the age of 40. The etiology of POF is not known but different environmental and genetic factors are involved, suggesting high heterogeneity of the disorder. The involvement of X-linked genes in the etiology of POF was hypothesized on the basis of its frequent association with chromosomal rearrangements and monosomies. In recent years a number of genes were described. Two genes, FRAXA and POF1B, have been formally demonstrated to be responsible for POF. Other genes have been proposed as candidates, but their role remains to be demonstrated.

KEYWORD

ovarian failure - POF1 - FRAXA

REFERENCES

• 1 Coulam C, Stringfellow S, Hoefnagel D. Evidence for a genetic factor in the etiology of premature ovarian failure.  Fertil Steril . 1983;  40 693-695
• 2 Yan G, Schoenfeld D, Penney C, Hurxthal K, Taylor A E, Faustman D. Identification of premature ovarian failure patients with underlying autoimmunity.  J Womens Health Gend Based Med . 2000;  9 275-287
• 3 Aittomaki K. The genetics of XX gonadal dysgenesis.  Am J Hum Genet . 1994;  54 844-851
• 4 Vegetti W, Grazia Tibiletti M, Testa G. Inheritance in idiopathic premature ovarian failure: analysis of 71 cases.  Hum Reprod . 1998;  13 1796-1800
• 5 Tibiletti M G, Testa G, Vegetti W. The idiopathic forms of premature menopause and early menopause show the same genetic pattern.  Hum Reprod . 1999;  14 2731-2734
• 6 Aittomaki K, Lucena J L, Pakarinen P. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.  Cell . 1995;  82 959-968
• 7 da Fonte Kohek B M, Batista M C, Russell A J. 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
• 8 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
• 9 Beau I, Touraine P, Meduri G. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.  J Clin Invest . 1998;  102 1352-1359
• 10 Touraine P, Beau I, Gougeon A. New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.  Mol Endocrinol . 1999;  13 1844-1854
• 11 Zinn A R, Ross J L. Turner syndrome and haploinsufficiency.  Curr Opin Genet Dev . 1998;  8 322-327
• 12 Fisher E M, Beer-Romero P, Brown L G. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome.  Cell . 1990;  63 1205-1218
• 13 Disteche C M. Escapees on the X chromosome.  Proc Natl Acad Sci U S A . 1999;  96 14180-14182
• 14 Lyon M F. Some milestones in the history of X-chromosome inactivation.  Annu Rev Genet . 1992;  26 16-28
• 15 Lahn B T, Page D C. Four evolutionary strata on the human X chromosome [published erratum appears in Science 1999;286:2273].  Science . 1999;  286 964-967
• 16 Schneider-Gadicke A, Beer-Romero P, Brown L G, Mardon G, Luoh S W, Page D C. Putative transcription activator with alternative isoforms encoded by human ZFX gene.  Nature . 1989;  342 708-711
• 17 Carrel L, Cottle A A, Goglin K C, Willard H F. A first-generation X-inactivation profile of the human X chromosome.  Proc Natl Acad Sci U S A . 1999;  96 14440-14444
• 18 Lahn B T, Page D C. Functional coherence of the human Y chromosome.  Science . 1997;  278 675-680
• 19 Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.  Hum Genet . 1990;  85 175-183
• 20 Zinn A R, Tonk V S, Chen Z. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1  Am J Hum Genet . 1998;  63 1757-1766
• 21 Powell C M, Taggart R T, Drumheller T C. 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
• 22 Sala C, Arrigo G, Torri G. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.  Genomics . 1997;  40 123-131
• 23 Prueitt R L, Ross J L, Zinn A R. Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene.  Cytogenet Cell Genet . 2000;  89 44-50
• 24 de Vries B B, Halley D J, Oostra B A, Niermeijer M F. The fragile X syndrome.  J Med Genet . 1998;  35 579-589
• 25 Cronister A, Schreiner R, Wittenberger M, Amiri K, Harris K, Hagerman R J. Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features.  Am J Med Genet . 1991;  38 269-274
• 26 Allingham-Hawkins D J, Babul-Hirji R, Chitayat D. 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
• 27 Uzielli M L, Guarducci S, Lapi E. Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.  Am J Med Genet . 1999;  84 300-303
• 28 Hundscheid R D, Sistermans E A, Thomas C M. Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.  Am J Hum Genet . 2000;  66 413-418
• 29 Vianna-Morgante A M, Costa S S. Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X.  Am J Hum Genet . 2000;  67 254-255
• 30 Murray A, Ennis S, Morton N. No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers.  Am J Hum Genet . 2000;  67 253-254
• 31 Hundscheid R D, Thomas C M, Braat D D, Oostra B A, Smits A P. Reply to the letters from Murray et al and Vianna-Morgante and Costa.  Am J Hum Genet . 2000;  67 256-258
• 32 Bione S, Sala C, Manzini C. 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 . 1998;  62 533-541
• 33 Speed R M. The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes.  Hum Genet . 1988;  78 260-266
• 34 Castrillon D H, Wasserman S A. Diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene.  Development . 1994;  120 3367-3377
• 35 Banfi S, Borsani G, Bulfone A, Ballabio A. Drosophila-related expressed sequences.  Hum Mol Genet . 1997;  6 1745-1753
• 36 Vassalli J D, Stutz A. Translational control: awakening dormant mRNAs.  Curr Biol . 1995;  5 476-479
• 37 Wasserman S. FH proteins as cytoskeletal organizers.  Trends Cell Biol . 1998;  8 111-115
• 38 Watanabe N, Kato T, Fujita A, Ishizaki T, Narumiya S. Cooperation between mDia1 and ROCK in Rho-induced actin reorganization.  Nat Cell Biol . 1999;  1 136-143
• 39 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
• 40 Page D C, Mosher R, Simpson E M. The sex-determining region of the human Y chromosome encodes a finger protein.  Cell . 1987;  51 1091-1104
• 41 Luoh S W, Bain P A, Polakiewicz R D. Zfx mutation results in small animal size and reduced germ cell number in male and female mice.  Development . 1997;  124 2275-2284
• 42 Laitinen M, Vuojolainen K, Jaatinen R. A novel growth differentiation factor-9 (GDF-9) related factor is co-expressed with GDF-9 in mouse oocytes during folliculogenesis.  Mech Dev . 1998;  78 135-140
• 43 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
• 44 Galloway S M, McNatty K P, Cambridge L M. 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
• 45 Jones M H, Furlong R A, Burkin H. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2 [published erratum appears in Hum Mol Genet 1997;6:334-335].  Hum Mol Genet . 1996;  5 1695-1701
• 46 James R S, Coppin B, Dalton P. A study of females with deletions of the short arm of the X chromosome.  Hum Genet . 1998;  102 507-516
• 47 Slegtenhorst-Eegdeman K E, Post M, Baarends W M, Themmen A P, Grootegoed J A. Regulation of gene expression in Sertoli cells by follicle-stimulating hormone (FSH): cloning and characterization of LRPR1, a primary response gene encoding a leucine-rich protein.  Mol Cell Endocrinol . 1995;  108 115-124
• 48 Roberts R G, Kendall E, Vetrie D, Bobrow M. Sequence and chromosomal location of a human homologue of LRPR1, an FSH primary response gene.  Genomics . 1996;  37 122-124
• 49 Slegtenhorst-Eegdeman K E, Verhoef-Post M, Parvinen M, Grootegoed J A, Themmen A P. Differential regulation of leucine-rich primary response gene 1 (LRPR1) mRNA expression in rat testis and ovary.  Mol Hum Reprod . 1998;  4 649-656
• 50 Katsuya T, Horiuchi M, Minami S. Genomic organization and polymorphism of human angiotensin II type 2 receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome.  Mol Cell Endocrinol . 1997;  127 221-228
• 51 Tanaka M, Ohnishi J, Ozawa Y. Characterization of angiotensin II receptor type 2 during differentiation and apoptosis of rat ovarian cultured granulosa cells.  Biochem Biophys Res Commun . 1995;  207 593-598
• 52 Yamada T, Horiuchi M, Dzau V J. Angiotensin II type 2 receptor mediates programmed cell death.  Proc Natl Acad Sci U S A . 1996;  93 156-160