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

Content Provider	Springer Nature Link
Author	Trikka, D. Davis, T. Lapenta, V. Brahe, C. Kessling, A. M.
Copyright Year	1997
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.
Starting Page	342
Ending Page	345
Page Count	4
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	8
Issue Number	5
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	1997-01-01
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cell Biology Anatomy Zoology
Content Type	Text
Resource Type	Article
Subject	Genetics

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