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小鼠蛋白激酶A催化亚基假基因的克隆及C亚基同工型的染色体定位

Cloning of a mouse protein kinase A catalytic subunit pseudogene and chromosomal mapping of C subunit isoforms.

作者信息

Cummings D E, Edelhoff S, Disteche C M, McKnight G S

机构信息

Department of Pharmacology, University of Washington, Seattle 98195.

出版信息

Mamm Genome. 1994 Nov;5(11):701-6. doi: 10.1007/BF00426076.

Abstract

Two isoforms of the protein kinase A catalytic subunit, C alpha and C beta, have previously been described in the mouse. We now report the cloning and characterization of a novel C-related sequence, Cx, from a murine genomic library. Cx is 89.8% identical to part of the C alpha coding region, but lacks all of the introns present in this gene, suggesting that it arose via retroposition. The existence of several frameshift mutations, premature termination codons, and missense mutations at critical sites confirms that it is a pseudogene. Furthermore, we are unable to detect any expression. Homology with functional protein kinase genes commences exactly at the first intron splice junction in C alpha, downstream of the expected translational start codon. Cx is also truncated at its 3' end by the interposition of two distinct, contiguous LINE-1 elements. By fluorescence in situ hybridization, we demonstrate that Cx is located on the X Chromosome (Chr), at band F3. This is displaced from its functional homologs, C alpha and C beta, which we map to mouse Chrs 8 (band C3) and 3 (band H3), respectively.

摘要

此前已在小鼠中发现蛋白激酶A催化亚基的两种同工型,即Cα和Cβ。我们现在报告从小鼠基因组文库中克隆并鉴定出一个新的与C相关的序列Cx。Cx与Cα编码区的一部分有89.8%的同源性,但缺少该基因中所有的内含子,这表明它是通过反转座产生的。几个移码突变、过早终止密码子以及关键位点的错义突变的存在证实它是一个假基因。此外,我们检测不到任何表达。与功能性蛋白激酶基因的同源性恰好在Cα中预期翻译起始密码子下游的第一个内含子剪接连接处开始。Cx在其3'端也因插入两个不同的相邻LINE-1元件而被截断。通过荧光原位杂交,我们证明Cx位于X染色体(Chr)的F3带。这与它的功能性同源物Cα和Cβ的位置不同,我们分别将Cα和Cβ定位到小鼠的8号染色体(C3带)和3号染色体(H3带)。

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