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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
Nature Genetics, Volume 9, No. 3, Year 1995
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Description
We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the gene encoding transglutaminase 1. We have now identified point mutations in TGM1 in two of the multiplex LI families used in the linkage study. Each nucleotide change causes a non–conservative amino acid substitution of histidine for one of two adjacent arginine residues in exon 3 of the gene (Arg141His, Arg142His). Within the transglutaminase family, these arginines are invariant within a conserved region, distant from the catalytic site of the enzyme. We hypothesize that these mutations adversely affect formation of crosslinks essential in production of cornified cell envelopes and a normal stratum corneum layer of the skin. © 1991 Nature Publishing Group.
Authors & Co-Authors
Russell, Laura J.
United States, Bethesda
National Institute of Arthritis and Musculoskeletal and Skin Diseases Niams
Digiovanna, John J.
United States, Bethesda
National Institute of Arthritis and Musculoskeletal and Skin Diseases Niams
Rogers, Geraldine R.
United States, Bethesda
National Institute of Arthritis and Musculoskeletal and Skin Diseases Niams
Steinert, Peter M.
United States, Bethesda
National Institute of Arthritis and Musculoskeletal and Skin Diseases Niams
Hashem, N.
Egypt, Cairo
Ain Shams University
Compton, John G.
United States, Bethesda
National Institute of Arthritis and Musculoskeletal and Skin Diseases Niams
Statistics
Citations: 350
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1038/ng0395-279
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics