Document Detail

Polymorphism due to variable number of repeats in the human involucrin gene.
MedLine Citation:
PMID:  1674722     Owner:  NLM     Status:  MEDLINE    
The coding region of the involucrin gene in higher primates contains a segment consisting of numerous tandem repeats of a 10-codon sequence. The process of repeat addition began in a common ancestor of all higher primates and subsequent repeats were added vectorially. As a result, the principal site of repeat addition has moved in the 3' to 5' direction and the most recently generated repeats (the late region) are close to the 5' end of the segment of repeats. In the human, most of the late region is made up of two different blocks, each consisting of nearly identical repeats. We describe here five polymorphic forms resulting from the addition of differing numbers of repeats to each block. As the variety and nature of the polymorphic alleles are different in different human populations, we postulate that the process of repeat addition is genetically determined.
M Simon; M Phillips; H Green
Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  9     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1991 Apr 
Date Detail:
Created Date:  1991-07-02     Completed Date:  1991-07-02     Revised Date:  2008-08-29    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  576-80     Citation Subset:  IM    
Department of Cellular and Molecular Physiology, Harvard Medical School, Boston, Massachusetts 02115.
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MeSH Terms
African Continental Ancestry Group / genetics
Base Sequence
Blotting, Southern
Cloning, Molecular
Deoxyribonucleases, Type II Site-Specific / metabolism
European Continental Ancestry Group / genetics
Molecular Sequence Data
Polymorphism, Restriction Fragment Length*
Protein Precursors / genetics*
Repetitive Sequences, Nucleic Acid*
Reg. No./Substance:
0/Codon; 0/Protein Precursors; 60108-77-2/involucrin; 9007-49-2/DNA; EC type II deoxyribonucleases; EC, Type II Site-Specific

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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