Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene

Hassock, S., Vetrie, D. and Giannelli, F. (1999) Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. Genomics, 55(1), pp. 21-27. (doi:10.1006/geno.1998.5600) (PMID:9888995)

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Abstract

We report the precise mapping and characterization of the genomic structure of the human homolog of the rat gene for the nucleolar protein NAP57, which has been reported to be responsible for X-linked dyskeratosis congenita (DKC). This single-copy gene, now called DKC, is transcribed from a CpG island 60 kb centromeric to the factor VIII gene in distal Xq28 and lies tail to tail with the palmitoylated erythrocyte membrane protein gene, MPP1. DKC comprises 15 exons spanning at least 16 kb and is transcribed into a widely expressed 2.6-kb message. Several functional motifs of DKC are assigned to coding sequences specified by individual exons. Analysis of normal female DNA revealed the presence of two polymorphisms in the DKC exons, while mutation analysis of a DKC patient identified a novel single amino acid missense mutation in exon 4. The latter together with exon 3 contain five of the six missense mutations reported so far in the DKC gene.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Vetrie, Dr David
Authors: Hassock, S., Vetrie, D., and Giannelli, F.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cancer Sciences
Journal Name:Genomics
Publisher:Elsevier
ISSN:0888-7543
ISSN (Online):1089-8646

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