Human COL6A1: Genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2

Trikka, D., Davis, Terence ORCID: https://orcid.org/0000-0003-2780-0262, Lapenta, V., Brahe, C. and Kessling, A. M. 1997. Human COL6A1: Genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2. Mammalian Genome 8 (5) , pp. 342-345. 10.1007/s003359900436

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Abstract

The αl(VI) and a2(VI) chains of type VI collagen (nonfibrillar) are highly similar and are encoded by single-copy genes in close proximity on human Chromosome (Chr) 21q22.3, a gene-rich region that has proved refractory to cloning. For the αl(VI) chain, only the regions encoding the triple-helical and the promoter have been characterized hitherto. To facilitate our study of the role of this gene in the phenotype of Down syndrome, we have cloned and sequenced the amino- and carboxyl-terminal globular domains of COL6A1. The amino-terminal domain consists of seven exons and the carboxyl-terminal globular domain of nine exons. Together with the exons of the triple-helical domain, COL6A1 is encoded by a total of 36 exons spanning approximately 30 kb. Comparison of the genomic organization of COL6A1 and COL6A2 revealed that despite the similarity within their triple-helical domains, the intron-exon structures of their globular domains differ markedly. Conservation is limited to the exons encoding amino acids immediately adjacent to the triple-helical region, including the cysteine residues essential for the structure of mature collagen VI. The intron-exon structures of these two genes are highly similar to the collagen VI genes of chicken. These data suggest that COL6A1 and COL6A2 arose from a gene duplication before the divergence of the reptilian and mammalian lineages.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Publisher:	Springer Verlag
ISSN:	0938-8990
Last Modified:	14 Dec 2022 07:22
URI:	https://orca.cardiff.ac.uk/id/eprint/63594

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