Characterization and chromosomal mapping of a mouse ortholog of the late-infantile ceroid-lipofuscinosis gene CLN2 |
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Authors: | Martin L Katz Po-Ching Liu Sarah E Grob-Nunn Hisashi Shibuya Gary S Johnson |
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Institution: | (1) Mason Eye Institute, University of Missouri School of Medicine, One Hospital Drive, Columbia, Missouri 65212, USA, US;(2) Department of Pathobiology, College of Veterinary Medicine, Columbia, Missouri 65211, USA, US |
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Abstract: | Late-infantile ceroid-lipofuscinosis (CLN2) is an autosomal recessively inherited, neurodegenerative disease in humans. The
CLN2 locus has been mapped to Chromosome (Chr) 11p15, and its sequence and genomic organization have recently been reported. In
the present study, the cDNA sequence, exon/intron organization, and chromosomal localization of a mouse ortholog of the CLN2 gene are described. The mouse cDNA contains an open reading frame that predicts a protein product of 562 amino acids. The
mouse and human coding regions are 86% and 88% identical at the nucleic acid and amino acid levels, respectively. One less
codon appears in the mouse cDNA when compared with the human ortholog. The mouse gene (Cln2) spans more than 6 kb and consists of 13 exons separated by introns ranging in size from 111 to 1259 bp. Length polymorphism
in an (AC)n microsatellite in intron 3 of the mouse Cln2 gene was used to perform segregation analysis with The Jackson Laboratory DNA Panel Mapping Resource. On the basis of this
analysis, the Cln2 gene was localized to a region of mouse Chr 7 that corresponds to human Chr 11p15. Characterization of the mouse Cln2 gene will facilitate generation of a mouse model for late-infantile ceroid-lipofuscinosis by gene targeting and identification
of functionally important regions of the Cln2 protein.
Received: 25 May 1999 / Accepted: 22 July 1999 |
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