Nikolova Ganka, Sinsheimer Janet S, Eicher Eva M, Vilain Eric
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Genetics. 2008 May;179(1):419-27. doi: 10.1534/genetics.108.088088. Epub 2008 May 5.
C57BL/6J (B6) mice containing the Mus domesticus poschiavinus Y chromosome, YPOS, develop ovarian tissue, whereas testicular tissue develops in DBA/2J or 129S1/SvImJ (129) mice containing the YPOS chromosome. To identify genes involved in sex determination, we used a congenic strain approach to determine which chromosomal regions from 129Sl/SvImJ provide protection against sex reversal in XYPOS mice of the C57BL/6J.129-YPOS strain. Genome scans using microsatellite and SNP markers identified a chromosome 11 region of 129 origin in C57BL/6J.129-YPOS mice. To determine if this region influenced testis development in XYPOS mice, two strains of C57BL/6J-YPOS mice were produced and used in genetic experiments. XYPOS adults homozygous for the 129 region had a lower incidence of sex reversal than XYPOS adults homozygous for the B6 region. In addition, many homozygous 129 XYPOS fetuses developed normal-appearing testes, an occurrence never observed in XYPOS mice of the C57BL/6J-YPOS strain. Finally, the amount of testicular tissue observed in ovotestes of heterozygous 129/B6 XYPOS fetuses was greater than the amount observed in ovotestes of homozygous B6 XYPOS fetuses. We conclude that a chromosome 11 locus derived from 129Sl/SvImJ essentially protects against sex reversal in XYPOS mice. A number of genes located in this chromosome 11 region are discussed as potential candidates.
携带小家鼠波希米亚种Y染色体(YPOS)的C57BL/6J(B6)小鼠会发育出卵巢组织,而携带YPOS染色体的DBA/2J或129S1/SvImJ(129)小鼠则会发育出睾丸组织。为了鉴定参与性别决定的基因,我们采用了近交系方法来确定129Sl/SvImJ的哪些染色体区域能防止C57BL/6J.129 - YPOS品系的XYPOS小鼠发生性反转。使用微卫星和单核苷酸多态性(SNP)标记进行的基因组扫描在C57BL/6J.129 - YPOS小鼠中鉴定出一个源自129的11号染色体区域。为了确定该区域是否影响XYPOS小鼠的睾丸发育,我们培育了两个品系的C57BL/6J - YPOS小鼠并用于遗传实验。对于129区域纯合的XYPOS成年小鼠性反转的发生率低于对于B6区域纯合的XYPOS成年小鼠。此外,许多129纯合的XYPOS胎儿发育出外观正常的睾丸,这在C57BL/6J - YPOS品系的XYPOS小鼠中从未观察到。最后,在杂合的129/B6 XYPOS胎儿的卵睾中观察到的睾丸组织量大于在纯合的B6 XYPOS胎儿的卵睾中观察到的量。我们得出结论,源自129Sl/SvImJ的11号染色体位点基本上能防止XYPOS小鼠发生性反转。本文讨论了位于这个11号染色体区域的一些基因作为潜在候选基因的可能性。