Kothapalli K S D, Kirkness E F, Vanwormer R, Meyers-Wallen V N
J.A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA.
Vet J. 2006 May;171(3):559-61. doi: 10.1016/j.tvjl.2004.12.013.
DMRT1, which encodes a zinc finger-like DNA binding motif, is a well-conserved gene that is involved in testis differentiation in a variety of mammalian and non-mammalian vertebrates. The objective of this study was to determine whether a DMRT1 microsatellite marker allele is associated with the affected phenotype in a pedigree of canine SRY-negative XX sex reversal generated from an American Cocker spaniel founder. Ten affected dogs and their parents and grandparents were genotyped. Four alleles at this locus and five different genotypes were found in this pedigree. All affected dogs inherited this trait from the foundation sire of this colony. Thus, the disease-causing mutation should be identical by descent in all affected dogs. Six affected dogs were found to have genotypes at this locus that were different from those of the founder sire. These results indicate that DMRT1 is an unlikely candidate gene for SRY-negative XX sex reversal in this model.
DMRT1编码一种锌指样DNA结合基序，是一个高度保守的基因，参与多种哺乳动物和非哺乳动物脊椎动物的睾丸分化。本研究的目的是确定DMRT1微卫星标记等位基因是否与一只美国可卡犬始祖产生的犬SRY阴性XX性反转家系中的患病表型相关。对10只患病犬及其父母和祖父母进行了基因分型。在这个家系中发现了该位点的4个等位基因和5种不同的基因型。所有患病犬都从这个群体的奠基公犬那里遗传了这一性状。因此，所有患病犬的致病突变应该是同源的。发现6只患病犬在该位点的基因型与奠基公犬不同。这些结果表明，在这个模型中，DMRT1不太可能是SRY阴性XX性反转的候选基因。
