FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates

被引:29
|
作者
Shan, ZH
Zabel, B
Trautmann, U
Hillig, U
Ottolenghi, C
Wang, YY
Haaf, T
机构
[1] Max Planck Inst Mol Genet, D-14195 Berlin, Germany
[2] Peoples Hosp Yunnan Prov, Yunnan Ctr Med Ctr, Kunming, Peoples R China
[3] Univ Mainz, Kinderklin, D-6500 Mainz, Germany
[4] Univ Erlangen Nurnberg, Inst Humangenet, Erlangen, Germany
[5] Univ Marburg, Zentrum Humangenet, Marburg, Germany
[6] Inst Pasteur, Paris, France
关键词
chromosome evolution; comparative mapping; DMRT1; FISH; monosomy; 9p; XY sex reversal; YAC;
D O I
10.1038/sj.ejhg.5200431
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Accumulating evidence suggests that haploinsufficiency of a dosage-sensitive gene(s) in human chromosome 9p24.3 is responsible for the failure of testicular development and feminisation in XY patients with monosomy for 9p. We have used molecular cytogenetic methods to characterise the sex-reversing 9p deletions in two XY females. Fluorescence in situ hybridisation (FISH) with YACs from the critical 9p region containing an evolutionarily conserved sex-determining gene, DMRT1, is a very fast and reliable assay for patient screening. Comparative YAC mapping on great ape and Old and New World monkey chromosomes demonstrated that the critical region was moved from an interstitial position on the ancestral primate chromosome to a very subtelomeric position in chimpanzee and humans by a pericentric inversion(s). Pathological 9p rearrangements may be the consequence of an evolutionary chromosome breakpoint in close proximity to the sex-reversal region.
引用
收藏
页码:167 / 173
页数:7
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