Document Detail

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
MedLine Citation:
PMID:  7773290     Owner:  NLM     Status:  MEDLINE    
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.
L J Russell; J J DiGiovanna; G R Rogers; P M Steinert; N Hashem; J G Compton; S J Bale
Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Nature genetics     Volume:  9     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-07-12     Completed Date:  1995-07-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  279-83     Citation Subset:  IM    
Genetic Studies Section, National Institute of Arthritis and Musculoskeletal and Skin Disease, NIH, Bethesda, Maryland 20892-2757, USA.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 14
Conserved Sequence
DNA / genetics
DNA Primers / genetics
Genes, Recessive
Ichthyosis, Lamellar / enzymology*,  genetics*
Linkage (Genetics)
Molecular Sequence Data
Point Mutation*
Polymerase Chain Reaction
Sequence Homology, Amino Acid
Transglutaminases / genetics*
Reg. No./Substance:
0/DNA Primers; 9007-49-2/DNA; EC

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