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Title: Cloning and characterization of the neural isoforms of human dystonin

Abstract

Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We have identified and cloned a gene encoded at the dt locus. The product of the dt gene, dystonin, is a neural isoform of a hemidesmosomal protein bullous pemphigoid antigen 1 (bpag1). To investigate the potential role of dystonin in human neuropathies, we have cloned the neural-specific 5{prime} exons of the human DT gene that together with the previously cloned BPAG1 sequences comprise human dystonin. The mouse and human dystonin genes demonstrate the same spectrum of alternatively spliced products, and the amino acid sequences of the neural-specific exons in the mouse and human genes are over 96% identical. 17 refs., 2 figs.

Authors:
; ; ;  [1]
  1. Univ. of Montreal, Quebec (Canada)
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
443881
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 29; Journal Issue: 3; Other Information: PBD: 10 Oct 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; ANTIGENS; DNA-CLONING; GENETIC MAPPING; DNA SEQUENCING; SPLICING; GENE MUTATIONS; TRANSCRIPTION; MICE; NERVOUS SYSTEM DISEASES; HEREDITARY DISEASES; HUMAN POPULATIONS; PROTEINS; AMINO ACID SEQUENCE

Citation Formats

Brown, A, Dalpe, G, Mathieu, M, and Kothary, R. Cloning and characterization of the neural isoforms of human dystonin. United States: N. p., 1995. Web. doi:10.1006/geno.1995.9936.
Brown, A, Dalpe, G, Mathieu, M, & Kothary, R. Cloning and characterization of the neural isoforms of human dystonin. United States. https://doi.org/10.1006/geno.1995.9936
Brown, A, Dalpe, G, Mathieu, M, and Kothary, R. 1995. "Cloning and characterization of the neural isoforms of human dystonin". United States. https://doi.org/10.1006/geno.1995.9936.
@article{osti_443881,
title = {Cloning and characterization of the neural isoforms of human dystonin},
author = {Brown, A and Dalpe, G and Mathieu, M and Kothary, R},
abstractNote = {Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We have identified and cloned a gene encoded at the dt locus. The product of the dt gene, dystonin, is a neural isoform of a hemidesmosomal protein bullous pemphigoid antigen 1 (bpag1). To investigate the potential role of dystonin in human neuropathies, we have cloned the neural-specific 5{prime} exons of the human DT gene that together with the previously cloned BPAG1 sequences comprise human dystonin. The mouse and human dystonin genes demonstrate the same spectrum of alternatively spliced products, and the amino acid sequences of the neural-specific exons in the mouse and human genes are over 96% identical. 17 refs., 2 figs.},
doi = {10.1006/geno.1995.9936},
url = {https://www.osti.gov/biblio/443881}, journal = {Genomics},
number = 3,
volume = 29,
place = {United States},
year = {Tue Oct 10 00:00:00 EDT 1995},
month = {Tue Oct 10 00:00:00 EDT 1995}
}