{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:02:07Z","timestamp":1791889327805,"version":"4.3.4"},"reference-count":60,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,6,7]],"date-time":"2002-06-07T00:00:00Z","timestamp":1023408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Changes at a single autosomal locus and many X\u2010linked loci have been implicated in women with gonadal dysgenesis [premature ovarian failure (POF) with deficits in ovarian follicles]. For the chromosome 3 locus, a forkhead transcription factor gene (<jats:italic>FOXL2<\/jats:italic>) has been identified, in which lesions result in decreased follicles by haploinsufficiency. In contrast, sporadic X; autosomal translocations are distributed at many points on the X, but concentrate in a critical region on Xq. The association of the breakpoints with genes involved in ovarian function is thus far weak (in four analyzed cases) and has not been related to pathology in other POF patients. While many more translocations can be analyzed in detail as the human genome sequence is refined, it remains possible that translocations like X monosomy (Turner syndrome) lead to POF not by interrupting specific genes important in ovarian development, but by causing aberrations in pairing or X\u2010inactivation during folliculogenesis. It is noted that the critical region has unusual features, neighboring the X\u2010inactivation center and including an 18 Mb region of very low recombination. These suggest that chromosome dynamics in the region may be sensitive to structural changes, and when modified by translocations might provoke apoptosis at meiotic checkpoints. Choices among models for the etiology of POF should be feasible based on studies of ovarian follicle development and attrition in mouse models. Studies would prominently include gene expression profiling of developmental\u2010specific pathways in nascent ovaries with controlled levels of Foxl2 and interacting proteins, or with defined changes in the X chromosome. Published 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10565","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:56:23Z","timestamp":1033905383000},"page":"328-333","source":"Crossref","is-referenced-by-count":125,"title":["Genes and translocations involved in POF"],"prefix":"10.1002","volume":"111","author":[{"given":"David","family":"Schlessinger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Herrera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Crisponi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Percesepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Pellegrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Pilia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"Forabosco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,6,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(98)00099-5"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1098\/rspb.1963.0055"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/83713"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/301761"},{"key":"e_1_2_7_6_1","first-page":"349","volume-title":"Controlling events in meiosis","author":"Burgoyne PS","year":"1984"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-94-011-1510-0_19"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/1294"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001703-199706000-00012"},{"key":"e_1_2_7_10_1","first-page":"604","article-title":"Incidence of premature ovarian failure","volume":"67","author":"Coulam CB","year":"1986","journal-title":"Obstet Gynecol"},{"key":"e_1_2_7_11_1","first-page":"622","article-title":"Deletions in patients with classical choroideremia vary in size from 45 to several megabases","volume":"47","author":"Cremers FPM","year":"1990","journal-title":"Am J Med Genet"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/84781"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(16)36362-2"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.2.132"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-7207(99)00238-5"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/316915"},{"key":"e_1_2_7_17_1","first-page":"11","article-title":"Ovarian dysfunction in balanced X\u2010autosome translocations: report of two cases involving band Xq21","volume":"22","author":"Forabosco A","year":"1979","journal-title":"Ann Genet"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1092310208"},{"key":"e_1_2_7_19_1","first-page":"333","volume-title":"Meiosis and gametogenesis","author":"Handel MA","year":"1998"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.2000.80.2.593"},{"key":"e_1_2_7_21_1","first-page":"359","volume-title":"Meiosis and gametogenesis","author":"Hunt PA","year":"1998"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8529(05)70051-7"},{"key":"e_1_2_7_23_1","first-page":"1022","article-title":"Choroideremia and ovarian dysgenesis associated with an X; 7 de novo balanced translocation","volume":"51","author":"Kaplan J","year":"1989","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_7_24_1","first-page":"617","article-title":"Pregnancy and the Turner syndrome","volume":"52","author":"King CR","year":"1978","journal-title":"Obstet Gynecol"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1997.00059.x"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90143-3"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(96)10017-2"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.69.1.182"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.278.5341.1315"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80695-X"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0021932000008464"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133268"},{"key":"e_1_2_7_33_1","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1210\/endo.140.2.6539","article-title":"Requirement for phosphadtidylinositol\u20103\u2032\u2010kinase in cytokine\u2010mediated germ cell survival during fetal oogenesis in the mouse","volume":"140","author":"Morita Y","year":"1999","journal-title":"Endocrinology"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1210\/mend.13.6.0306"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/80442"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.637"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.767"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.3.210"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/493"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209476"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040404"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1296"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1089"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-241"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.1.27"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520105"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1159\/000015560"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-70-3-559"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.4542"},{"key":"e_1_2_7_50_1","first-page":"365","volume-title":"Genetic mechanisms of sexual development","author":"Simpson JL","year":"1979"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO;2-5"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00195820"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291673"},{"issue":"6","key":"e_1_2_7_54_1","first-page":"219","article-title":"X\u2010autosome translocations: a review","volume":"14","author":"Summitt RL","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00194216"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.7.483"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-7207(99)00224-5"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330331"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198204293061707"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90230-F"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10565","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10565","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:53:16Z","timestamp":1697640796000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10565"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6,7]]},"references-count":60,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,8,15]]}},"alternative-id":["10.1002\/ajmg.10565"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10565","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6,7]]}}}