PDF(Pubmed)
Abstract：
Here, for the first time, the structure of genes involved in sex determination in mammals (full Sry and partial Rspo1, Eif2s3x, and Eif2s3y) was analyzed for the European mole Talpa europaea with ovotestes in females. We confirmed male-specificity for Eif2s3y and Sry. Five exons were revealed for Rspo1 and the deep similarity with the structure of this gene in T. occidentalis was proved. The most intriguing result was obtained for the Sry gene, which, in placental mammals, initiates male development. We described two exons for this canonically single-exon gene: the first (initial) exon is only 15 bp while the second exon includes 450 bp. The exons are divided by an extended intron of about 1894 bp, including the fragment of the LINE retroposon. Moreover, in chromatogram fragments, which correspond to intron and DNA areas, flanking both exons, we revealed double peaks, similar to heterozygous nucleotide sites of autosomal genes. This may indicate the existence of two or more copies of the Sry gene. Proof of copies requires an additional in-depth study. We hypothesize that unusual structure and possible supernumerary copies of Sry may be involved in ovotestes formation.
摘要：
这里,第一次,哺乳动物性别决定相关基因的结构(全Sry和部分Rspo1，Eif2s3x，和Eif2s3y）分析了具有雌性卵细胞的欧洲mole鼠。我们证实了Eif2s3y和Sry的男性特异性。揭示了Rspo1的五个外显子，并证明了该基因与西花毛虫的结构有很深的相似性。最有趣的结果是Sry基因，which,在胎盘哺乳动物中，启动男性发展。我们描述了该规范单外显子基因的两个外显子：第一个（初始）外显子仅为15bp，而第二个外显子包括450bp。外显子被约1894bp的延伸内含子分开，包括LINE逆转录病毒的片段。此外，在色谱片段中，对应于内含子和DNA区域，侧翼的两个外显子，我们发现了双峰，与常染色体基因的杂合核苷酸位点相似。这可能表明存在两个或多个Sry基因拷贝。副本证明需要额外的深入研究。我们假设Sry的异常结构和可能的多余副本可能参与了ovotestes的形成。
