Genomic sequencing reveals the structure of the Kcnk6 and Map3k11 genes and their close vicinity to the Sipa1 gene on mouse chromosome 19

被引:0
|
作者
Saridaki, A
Ferraz, C
Demaille, J
Scherer, G
Roux, AF
机构
[1] Univ Freiburg, Inst Human Genet & Anthropol, Freiburg, Germany
[2] CNRS, UPR 1142, Inst Genet Humaine, Montpellier, France
来源
CYTOGENETICS AND CELL GENETICS | 2000年 / 89卷 / 1-2期
关键词
D O I
10.1159/000015569
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
In this report we present the analysis of two overlapping mouse cosmid clones that contain the entire Kcnk6, Map3k11 I and Pcnxl3 genes, as well as part of the Sipa1 gene. The sequence and genomic organisation of the Kcnk6 and Map3k11 genes are described in detail. Sipa1 and Map3k11, which have independently been mapped with low resolution to the centromeric region of mouse chromosome 19, are shown here to lie close to each other and to the Kcnk6 gene, which has not previously been mapped. This gene cluster maps to the vicinity of the Dancer (Dc) mutation, which involves inner ear abnormalities and circling phenotypes. Since potassium channels have been implicated in deafness disorders, we have analysed the Kcnk6 gene, which encodes a two-P domain potassium channel, in the Dc mutant. No De-causing mutation in the Kcnk6 coding region could be identified. However, we detected a polymorphism in the Kcnk6 gene that leads to a C-terminal extension of the encoded protein by eight amino acids. Copyright(C)2000S.KargerAG,Basel.
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页码:85 / 88
页数:4
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