The human genome has only one functional hsp47 gene (CBP2) and a pseudogene (pshsp47)
The human genome has only one functional hsp47 gene (CBP2) and a pseudogene (pshsp47)
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DOI：
10.1016/s0378-1119(98)00592-7
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发表时间：
1999-02-18
期刊：
影响因子：
3.5
通讯作者：
Nagata, K
中科院分区：
文献类型：
--
作者：
Nagai, N;Tetuya, Y;Nagata, K
在迄今为止研究的所有物种中，只有人类中的hsp 47被报道以两个独立的基因存在。在这里，我们研究了hsp 47是否形成一个基因家族，如果是的话，有多少基因组成的家庭。人hsp 47 cDNA的克隆和测序显示，只有一个基因，相同的CBP 2，转录。没有发现与人hsp 47同源的colligin对应的转录本，但用小鼠hsp 47的外显子III片段作探针的基因组southern杂交显示了两条限制性内切酶带。我们克隆并测序了与额外条带对应的基因，发现人类基因组中存在一个假基因（pshsp 47）。我们已经映射这个假基因的染色体9 p12-p13的荧光原位杂交（FISH）使用3.5 kb的基因组片段含有整个pshsp 47序列作为探针。这些结果表明，功能性hsp 47存在的CBP 2，而不是作为colligin，和一个高度保守的假基因存在于人类基因组中。(C)1999 Elsevier Science B. V.保留所有权利。
Among all the species investigated to date, only in humans is hsp47 reported to exist as two separate genes. Here we examined whether hsp47 forms a gene family, and if so, how many genes constitute the family. Cloning and sequencing of human hsp47 cDNA revealed that only one gene, identical to CBP2, was transcribed. No transcript corresponding to colligin, which was reported to be a human homologue of hsp47, was found. Genomic southern hybridization using the exon III fragment of mouse hsp47 as a probe, however, showed two bands for several restriction enzyme digests. We cloned and sequenced the gene corresponding to the extra band and found that a pseudogene (pshsp47) existed in the human genome. We have mapped this pseudogene to chromosome 9p12-p13 by fluorescent in situ hybridization (FISH) using a 3.5 kb genomic fragment containing the entire pshsp47 sequence as a probe. These results suggested that functional hsp47 exists as CBP2, not as colligin, and a highly conserved pseudogene is present in the human genome. (C) 1999 Elsevier Science B.V. All rights reserved.