Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

ABSTRACT: Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in human CHS and bg mice. Here we report the sequences of two major mRNA isoforms of the CHS gene in human and mouse. These isoforms differ both in size and in sequence at the 3' end of their coding domains, with the smaller isoform (approximately 5.8 kb) arising from incomplete splicing and reading through an intron. These mRNAs also differ in tissue distribution of transcription and in predicted biological properties. Novel mutations were identified within the region of the coding domain common to

SUBMITTER: Barbosa MD 

PROVIDER: S-EPMC2871070 | biostudies-literature | 1997 Jul

REPOSITORIES: biostudies-literature