Bp. Chadwick et al., THE HUMAN HOMOLOG OF THE NINJURIN GENE MAPS TO THE CANDIDATE REGION OF HEREDITARY SENSORY NEUROPATHY TYPE-I (HSNI), Genomics, 47(1), 1998, pp. 58-63
The human ninjurin gene was isolated from a cDNA Library enriched for
transcripts hom band 9q22, A 1.2-kb message was detected for ninjurin
in all human tissues studied, The full-length sequence codes for a put
ative 152-amiao-acid protein with 89% identity to the rat ninjurin pro
tein, The mouse homologue was isolated and showed 98% amino acid ident
ity to the rat protein. Mapping by FISH localized mouse localized to m
ouse chromosome 13, a region that shows synteny with human chromosome
9q22. Genomic characterization Of the human gene revealed four exons c
overing less than 10 kb, The map position of the human gene is between
the genetic markers D9S196 and D9S197 on human chromosome band 9q22,
This places the gene within the candidate regions for the degenerative
neurological disorder hereditary sensory neuropathy type I and the ca
ncer predisposition syndrome multiple self-healing squamous epitheliom
ata. (C) 1998 Academic Press.