Sry-negative XX sex reversal in the German shorthaired pointer dog.

Sry-negative XX sex reversal in the German shorthaired pointer dog.
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德国短毛指示犬的 Sry 阴性 XX 性逆转。

DOI:
10.1093/oxfordjournals.jhered.a111605
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发表时间:
1995
期刊:
The Journal of heredity
影响因子:
--
通讯作者:
Fajt,V
Fajt,V
中科院分区:
--
文献类型:
--
作者:
Meyers-Wallen,VN;Bowman,L;Acland,GM;Palmer,VL;Schlafer,D;Fajt,V

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目前的假设表明,在哺乳动物中的睾丸分化级联是由Sry,一个基因编码的DNA结合蛋白的高迁移率族(HMG)类诱导。在XX性逆转中,缺乏Y染色体的个体发育出睾丸组织。Sry从Y染色体易位到X染色体已经在这些个体中的一些个体中发现,但不是全部。德国短毛指示犬的XX性逆转可能是人类Sry阴性XX性逆转的模型。本研究的目的是报告性反转的家族发生,并确定是否保守的Sry HMG盒,睾丸诱导所必需的Sry蛋白的区域,是存在于受影响的狗的基因组DNA。犬Sry HMG盒序列用作聚合酶链反应中的引物。从正常雄性犬中产生104 bp Sry HMG盒产物,但从雌性或XX性逆转犬中不产生。使用次黄嘌呤磷酸核糖基转移酶引物的平行对照反应从所有狗产生177 bp产物。患病犬的家系及其基因组DNA中Sry HMG盒序列的缺失表明,这种疾病是由于睾丸分化级联中的常染色体基因突变所致。
Present hypotheses indicate that a testis differentiation cascade in mammals is induced by Sry, a gene encoding a DNA binding protein of the high mobility group (HMG) class. In XX sex reversal, individuals lacking a Y chromosome develop testicular tissue. Sry translocation from the Y to the X chromosome has been found in some, but not all, of these individuals. XX sex reversal in the German shorthaired pointer dog may be a model of Sry-negative XX sex reversal in humans. The purposes of this study were to report the familial occurrence of sex reversal and determine whether the conserved Sry HMG box, the region of the Sry protein essential for testis induction, is present in genomic DNA of affected dogs. Canine Sry HMG box sequences were used as primers in polymerase chain reactions. A 104 bp Sry HMG box product was generated from normal males, but not from females or XX sex reversed dogs. Parallel control reactions using hypoxanthine phosphoribosyl transferase primers generated a 177 bp product from all dogs. The pedigree of affected dogs and the absence of Sry HMG box sequences in their genomic DNA suggest that this disorder is due to a mutant autosomal gene in the testis differ-entiation cascade.