Bogdanov Alexey, Sokolova Maria, Bakloushinskaya Irina
Koltzov Institute of Developmental Biology, Russian Academy of Sciences, 119334 Moscow, Russia.
Biological Department, Lomonosov State University, 119234 Moscow, Russia.
Animals (Basel). 2024 Jul 26;14(15):2180. doi: 10.3390/ani14152180.
Here, for the first time, the structure of genes involved in sex determination in mammals (full and partial , , and ) was analyzed for the European mole with ovotestes in females. We confirmed male-specificity for and . Five exons were revealed for and the deep similarity with the structure of this gene in was proved. The most intriguing result was obtained for the 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 gene. Proof of copies requires an additional in-depth study. We hypothesize that unusual structure and possible supernumerary copies of may be involved in ovotestes formation.
在此，首次对雌性具有卵睾的欧洲鼹鼠中参与性别决定的基因（完整和部分的、、和）结构进行了分析。我们证实了和的雄性特异性。发现基因有五个外显子，并证明了其与该基因在结构上的高度相似性。对于基因获得了最有趣的结果，在胎盘哺乳动物中，该基因启动雄性发育。我们描述了这个典型的单外显子基因的两个外显子：第一个（起始）外显子仅15个碱基对，而第二个外显子包含450个碱基对。外显子由约1894个碱基对的延伸内含子隔开，内含子包括LINE逆转座子片段。此外，在对应于内含子和DNA区域的色谱图片段中，在外显子两侧，我们发现了双峰，类似于常染色体基因的杂合核苷酸位点。这可能表明基因存在两个或更多拷贝。拷贝的证据需要进一步深入研究。我们推测基因不寻常的结构和可能的多余拷贝可能与卵睾的形成有关。
