Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

Abstract:

: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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Russell LJ,DiGiovanna JJ,Rogers GR,Steinert PM,Hashem N,Compton JG,Bale SJ

doi

10.1038/ng0395-279

subject

Has Abstract

pub_date

1995-03-01 00:00:00

pages

279-83

issue

3

eissn

1061-4036

issn

1546-1718

journal_volume

9

pub_type

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