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脯氨酰4-羟化酶α亚基编码基因定位于人类染色体10q21.3 - 23.1区域。

Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1.

作者信息

Pajunen L, Jones T A, Helaakoski T, Pihlajaniemi T, Solomon E, Sheer D, Kivirikko K I

机构信息

Collagen Research Unit, University of Oulu, Finland.

出版信息

Am J Hum Genet. 1989 Dec;45(6):829-34.

Abstract

Prolyl 4-hydroxylase, an alpha 2 beta 2 tetramer, catalyzes the formation of 4-hydroxyproline in collagens by the hydroxylation of proline residues in peptide linkages and plays a crucial role in the synthesis of these proteins. The gene for the beta-subunit of prolyl 4-hydroxylase has recently been mapped to the long arm of human chromosome 17, at band 17q25. We report here chromosomal localization of the gene for the catalytically and regulatorily important alpha-subunit of human prolyl 4-hydroxylase. Analysis of 24 rodent x human cell hybrids by Southern blotting with cDNA probes for the human alpha-subunit indicated complete cosegregation of the gene for the alpha-subunit with human chromosome 10. A cell hybrid containing only part of chromosome 10 mapped the gene to 10q11----qter. In situ hybridization mapped the gene to 10q21.3-23.1. The gene for the alpha-subunit is thus not physically linked to that for the beta-subunit of the enzyme.

摘要

脯氨酰4-羟化酶是一种α2β2四聚体,通过肽键中脯氨酸残基的羟基化作用催化胶原蛋白中4-羟脯氨酸的形成,在这些蛋白质的合成中起关键作用。脯氨酰4-羟化酶β亚基的基因最近已被定位到人类染色体17的长臂上,位于17q25带。我们在此报告人类脯氨酰4-羟化酶具有催化和调节重要性的α亚基基因的染色体定位。用人类α亚基的cDNA探针通过Southern印迹法分析24个啮齿动物与人的细胞杂种,结果表明α亚基基因与人染色体10完全共分离。一个仅含有部分10号染色体的细胞杂种将该基因定位到10q11----qter。原位杂交将该基因定位到10q21.3 - 23.1。因此,α亚基基因与该酶的β亚基基因在物理上没有连锁关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5046/1683466/5e3e17d6b0e0/ajhg00109-0006-a.jpg

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