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导致X连锁卡尔曼综合征的人类基因在鸡和鹌鹑中的同源基因特性分析。

Characterization of the chicken and quail homologues of the human gene responsible for the X-linked Kallmann syndrome.

作者信息

Legouis R, Cohen-Salmon M, del Castillo I, Levilliers J, Capy L, Mornow J P, Petit C

机构信息

Institut Pasteur, Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Paris, France.

出版信息

Genomics. 1993 Aug;17(2):516-8. doi: 10.1006/geno.1993.1360.

Abstract

The human KAL gene, responsible for the X-linked Kallmann syndrome, was isolated previously. Southern blot analysis using human cDNA probes detected cross-hybridization with DNA from several organisms, including chicken and quail. The entire coding sequences of chicken and quail KAL cDNAs were determined. A comparison of these cDNAs with the human KAL cDNA reveals an overall identity of 73 and 72%, respectively. This results in 76 and 75% identity at the protein level. The highest conservation was found in the WAP four-disulfide core motif and in two of the four fibronectin type III repeats reported in the human protein. These results further support the hypothesis that the KAL protein is an extracellular matrix component with anti-protease and adhesion functions.

摘要

负责X连锁卡尔曼综合征的人类KAL基因先前已被分离出来。使用人类cDNA探针进行的Southern印迹分析检测到与包括鸡和鹌鹑在内的几种生物体的DNA发生交叉杂交。确定了鸡和鹌鹑KAL cDNA的完整编码序列。将这些cDNA与人类KAL cDNA进行比较,结果显示总体同一性分别为73%和72%。这导致在蛋白质水平上的同一性为76%和75%。在人类蛋白质中报道的WAP四二硫键核心基序和四个纤连蛋白III型重复序列中的两个中发现了最高的保守性。这些结果进一步支持了KAL蛋白是一种具有抗蛋白酶和粘附功能的细胞外基质成分的假说。

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