Berta P, Morin D, Poulat F, Taviaux S, Lobaccaro J M, Sultan C, Dumas R
Centre de Recherches de Biochimie Macromoléculaire, CNRS-UPR 8402, INSERM U-249, Montpellier, France.
Horm Res. 1992;37(3):103-6. doi: 10.1159/000182291.
In the Frasier syndrome there is an association between XY gonadal dysgenesis and chronic renal failure. Owing to an observed sex reversal, the Y chromosomes of two girls with this syndrome have been analyzed. Using molecular-biology techniques, no major alterations of the known sex-determining area of the Y chromosome were found. Furthermore, the sequence did not reveal impairment of the recently described testis-determining factor SRY. These data suggest that in the Frasier syndrome, XY sex reversal and renal failure could be the result of either faulty gene(s) located downstream in the sex differentiation pathway during embryogenesis, or impaired SRY regulation. Preliminary results on the Wilms' tumor suppressor gene WT1, a candidate for acting downstream to SRY, are also provided.
在弗雷泽综合征中，XY性腺发育不全与慢性肾衰竭之间存在关联。由于观察到性反转现象，对两名患有该综合征女孩的Y染色体进行了分析。使用分子生物学技术，未发现Y染色体已知性别决定区域有重大改变。此外，序列分析未显示最近描述的睾丸决定因子SRY有损伤。这些数据表明，在弗雷泽综合征中，XY性反转和肾衰竭可能是胚胎发育过程中性别分化途径下游存在缺陷基因，或SRY调控受损的结果。还提供了关于威尔姆斯瘤抑制基因WT1的初步结果，WT1是SRY下游作用的候选基因。
