Human Molecular Genetics, Vol 6, 1091-1098, Copyright © 1997 by Oxford University Press
MD Barbosa, FJ Barrat, VT Tchernev, QA Nguyen, VS Mishra, SD Colman, E Pastural, R Dufourcq-Lagelouse, A Fischer, RF Holcombe, MR Wallace, SJ Brandt, G de Saint Basile and SF Kingsmore
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
both isoforms in three CHS patients: C-->T transitions that generated
stop codons (R50X and Q1029X) were found in two patients, and a novel
frameshift mutation (deletion of nucleotides 3073 and 3074 of the coding
domain) was found in a third. Northern blots of lymphoblastoid mRNA from
CHS patients revealed loss of the largest transcript (approximately 13.5
kb) in two of seven CHS patients, while the small mRNA was undiminished in
abundance. These results suggest that the small isoform alone cannot
complement Chediak-Higashi syndrome.
ARTICLES
Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse
Department of Medicine, Center for Mammalian Genetics, University of Florida, Gainesville 32610-0221, USA.
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