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Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19).

作者信息

Kerscher S, Church R L, Boyd Y, Lyon M F

机构信息

MRC Radiobiology Unit, Didcot, Oxfordshire, United Kingdom.

出版信息

Genomics. 1995 Sep 20;29(2):445-50. doi: 10.1006/geno.1995.9983.

DOI:10.1006/geno.1995.9983
PMID:8666393
Abstract

Four genes encoding eye lens-specific proteins, potential candidate genes for congenital cataract (CC) mutations, were mapped in the mouse genome using a panel of somatic cell hybrids and DNAs from the EU-CIB (European Collaborative Interspecific Backcross). Two of them are lens fiber cell structural proteins: the Cryba1 locus encoding crystallinbetaA3/A1 maps to chromosome 11, 2.5 +/- 2.5 cM distal to D11Mit31, and the Crybb2 locus encoding crystallinbetaB2 maps to chromosome 5, 9.1 +/- 4.3 cM distal to D5Mit88. The other two genes encode lens-specific gap junction and integral membrane proteins, respectively: The Gja8 locus encoding gap juction membrane channel protein alpha8, also called connexin50 or MP70, maps to chromosome 3, 11.9 +/- 5.0 cM distal to D3Mit22, and the Lim2 locus encoding lens intrinsic membrane protein 2, also called MP19, maps to chromosome 7, 2.5 +/- 2.5 cM proximal to Ngfg. All four map positions, when compared with the corresponding positions in human, lie within known regions of conserved synteny between mouse and human chromosomes.

摘要

相似文献

1
Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19).
Genomics. 1995 Sep 20;29(2):445-50. doi: 10.1006/geno.1995.9983.
2
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Mol Vis. 2001 Apr 2;7:79-88.
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Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse.编码βA3/A1-晶体蛋白的基因Cryba1发生突变,会在小鼠中导致显性白内障。
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Invest Ophthalmol Vis Sci. 2001 Jun;42(7):1574-80.
7
Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant.Lim2(To3)转基因小鼠在lim2基因中鉴定出的突变与To3小鼠突变体中的白内障发生之间建立了因果关系。
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Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract.导致显性白内障的小鼠晶状体特异性MP70编码基因突变的特征分析。
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Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.通过荧光原位杂交技术将人类MP70(Cx50;连接蛋白50)基因定位到1q21.1区域进行区域图谱绘制。
Mol Vis. 1997 Dec 17;3:13.

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A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
人类连接蛋白50基因(GJA8)中的一个错义突变是常染色体显性“带状粉状”白内障的基础,该基因位于1号染色体长臂。
Am J Hum Genet. 1998 Mar;62(3):526-32. doi: 10.1086/301762.