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通过原位杂交将人类原胶原蛋白α1(IV)基因定位于染色体13q34。

Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization.

作者信息

Emanuel B S, Sellinger B T, Gudas L J, Myers J C

出版信息

Am J Hum Genet. 1986 Jan;38(1):38-44.

PMID:3753820
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684704/
Abstract

Type IV (alpha 1 and alpha 2 chains) appears to be the only procollagen present in basement membranes. The structure of this protein is highly divergent from the interstitial and type V procollagens as exemplified by the interruptions in the Gly-X-Y region and unprocessed amino and carboxyl noncollagenous peptides. To expand our knowledge concerning the primary sequence of type IV and to investigate the factors influencing its unique distribution, we recently isolated cDNA clones coding for part of the human alpha 1(IV) chain. To determine if the alpha 1(IV) gene was cytologically linked to other procollagen genes that have been assigned to autosomes 17, 12, 7, and 2, overlapping clones covering 2.6 kilobases (kb) of the alpha 1(IV) mRNA were used together for in situ hybridization to human metaphase chromosomes. Here, we show precise localization of alpha 1(IV) at the telomere of 13q, thereby defining a fifth chromosome that contains members of this large and surprisingly dispersed multigene family.

摘要

IV型（α1和α2链）似乎是基底膜中唯一存在的前胶原。该蛋白质的结构与间质型和V型前胶原高度不同，例如在Gly-X-Y区域的中断以及未加工的氨基和羧基非胶原肽。为了扩展我们对IV型一级序列的了解，并研究影响其独特分布的因素，我们最近分离了编码人α1(IV)链部分的cDNA克隆。为了确定α1(IV)基因在细胞学上是否与已定位到常染色体17、12、7和2上的其他前胶原基因相关联，我们使用覆盖α1(IV) mRNA 2.6千碱基（kb）的重叠克隆一起对人中期染色体进行原位杂交。在此，我们展示了α1(IV)在13q端粒的精确定位，从而确定了第五条包含这个庞大且令人惊讶地分散的多基因家族成员的染色体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ea/1684704/a550e680d45b/ajhg00150-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ea/1684704/a550e680d45b/ajhg00150-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99ea/1684704/a550e680d45b/ajhg00150-0044-a.jpg

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Am J Hum Genet. 1986 Jan;38(1):38-44.
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Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2).人类α2(IV)胶原蛋白链的部分结构及基因（COL4A2）的染色体定位
Hum Genet. 1987 Dec;77(4):318-24. doi: 10.1007/BF00291418.
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The genes coding for human pro alpha 1(IV) collagen and pro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13.编码人原α1（IV）胶原蛋白和原α2（IV）胶原蛋白的基因均位于13号染色体长臂末端。
Am J Hum Genet. 1988 Feb;42(2):309-14.
10
Alpha 1(IV) and alpha 2(IV) collagen genes are regulated by a bidirectional promoter and a shared enhancer.α1（IV）和α2（IV）胶原蛋白基因由一个双向启动子和一个共享增强子调控。
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Biochemistry. 1981 Feb 17;20(4):996-1006. doi: 10.1021/bi00507a054.
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Regional localization of the human alpha 2(I) collagen gene on chromosome 7 by molecular hybridization.通过分子杂交将人类α2（I）胶原蛋白基因定位到7号染色体上。
Cytogenet Cell Genet. 1983;35(1):64-6. doi: 10.1159/000131838.
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Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D.通过与酯酶D的连锁分析，将遗传性视网膜母细胞瘤基因定位于人类第13号染色体。
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Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene.人I型前胶原原α2链cDNA的结构。与鸡的原α2（I）链cDNA比较，确定了该蛋白质和基因在结构上保守的特征。
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Sequence comparison of pepsin-resistant segments of basement-membrane collagen alpha 1(IV) chains from bovine lens capsule and mouse tumour.牛晶状体囊和小鼠肿瘤基底膜胶原蛋白α1(IV)链的胃蛋白酶抗性片段的序列比较
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Structure and sequence of the chicken type II procollagen gene. Characterization of the region encoding the carboxyl-terminal telopeptide and propeptide.鸡Ⅱ型原胶原基因的结构与序列。编码羧基末端端肽和前肽区域的特征分析。
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