X;Y translocation revealed by chromosome microdissection and FISH in fertile XY females in the Brazilian rodent Akodon montensis.

V Fagundes, A U Christoff, J Scalzi-Martin, J Hozier, C A Moreira-Filho, Y Yonenaga-Yassuda
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引用次数: 13

Abstract

In a Brazilian population of the neotropical rodent Akodon montensis we found five sex-reversed XY females. These animals were cytogenetically analyzed by chromosome painting using species-specific DNA probes from the Y chromosome, generated by chromosomal microdissection and subsequent use of the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The results showed a chromosome complement with an apparently normal Y chromosome and an X chromosome carrying a translocation that encompasses a large portion of the Y chromosome (seemingly the entire Y). Ovarian histology suggested that these females are fertile. Amplification of the SRY HMG box sequence by PCR shows that at least one copy of the Sry gene is present in the A. montensis XY females. Based on our findings, we suggest that the breakpoint of the X;Y translocation probably altered an X-linked sex-determining locus (or loci), blocking testicular organogenesis in the XY females. Further studies are necessary to determine the precise location and role of this putative sex-determining chromosomal region. Genetic mechanisms of XY sex reversal in A. montensis populations are discussed.

染色体显微解剖和FISH在巴西啮齿动物Akodon montensis的可育XY雌性中发现的X;Y易位。
在巴西的一个新热带啮齿动物种群中,我们发现了5只性别反转的XY雌性。对这些动物进行细胞遗传学分析,使用来自Y染色体的物种特异性DNA探针,通过染色体显微解剖和随后使用退化寡核苷酸引物聚合酶链反应(dopp - pcr)产生。结果显示,染色体补体中有一条明显正常的Y染色体和一条携带易位的X染色体,其中包含了很大一部分Y染色体(似乎是整个Y染色体)。卵巢组织学表明,这些女性具有生育能力。PCR扩增的SRY HMG盒序列表明,至少有一个拷贝的SRY基因存在于孟氏弓形虫XY雌性中。根据我们的研究结果,我们认为X;Y易位的断点可能改变了X连锁的性别决定位点(或多个位点),阻碍了XY型女性的睾丸器官发生。需要进一步的研究来确定这个假定的决定性别的染色体区域的精确位置和作用。讨论了孟氏弓形虫种群XY性别逆转的遗传机制。
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