犬Prop-1基因(PROP1)的克隆、表征和物理定位:排除德国牧羊犬联合垂体激素缺乏症的候选基因。

I S Lantinga-van Leeuwen, H S Kooistra, J A Mol, C Renier, M Breen, B A van Oost
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引用次数: 21

摘要

据报道,编码Pit-1和Prop-1的基因异常会导致小鼠和人类的联合垂体激素缺乏症(CPHD)。在狗中,德国牧羊犬品种也有类似的表型。我们之前报道过Pit-1基因(POU1F1)在受影响的德国牧羊犬中不会发生突变。在这项研究中,我们报道了犬Prop-1基因(PROP1)的分离和定位,并评估了PROP1在德国牧羊犬侏儒症中的作用。犬PROP1基因含有3个外显子,编码226个氨基酸的蛋白。推导出的氨基酸序列与小鼠和人Prop-1蛋白的同源性分别为79%和84%。利用荧光原位杂交技术,将PROP1定位到犬第11染色体上。进一步的犬辐射杂交图谱显示与多态DNA标记AHT137共定位。对矮小德国牧羊犬基因组DNA的序列分析显示PROP1基因没有变化。此外,AHT137的连锁分析显示,PROP1位点与CPHD表型之间没有共分离,排除了该基因作为犬CPHD的候选基因,并提供了一种新的垂体功能减退自发模型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cloning, characterization, and physical mapping of the canine Prop-1 gene (PROP1): exclusion as a candidate for combined pituitary hormone deficiency in German shepherd dogs.

Abnormalities in the genes encoding Pit-1 and Prop-1 have been reported to cause combined pituitary hormone deficiency (CPHD) in mice and humans. In dogs, a similar phenotype has been described in the German shepherd breed. We have previously reported that the Pit-1 gene (POU1F1) is not mutated in affected German shepherd dogs. In this study, we report the isolation and mapping of the canine Prop-1 gene (PROP1), and we assessed the involvement of PROP1 in German shepherd dog dwarfism. The canine PROP1 gene was found to contain three exons, encoding a 226 amino acid protein. The deduced amino acid sequence was 79% and 84% homologous with the mouse and human Prop-1 protein, respectively. Using fluorescence in situ hybridization, PROP1 was mapped to canine chromosome 11. Further mapping with a canine radiation hybrid panel showed co-localization with the polymorphic DNA marker AHT137. Sequence analysis of genomic DNA from dwarf German shepherd dogs revealed no alterations in the PROP1 gene. Moreover, linkage analysis of AHT137 revealed no co-segregation between the PROP1 locus and the CPHD phenotype, excluding this gene as candidate for canine CPHD and providing a new spontaneous model of hypopituitarism.

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