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Title: Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Deifuss muscular dystrophy and dyskeratosis congenita

Abstract

Mapping studies have indicated that over two dozen genetic diseases lie on Xq28, the distal long arm of the X chromosome. In most cases the responsible gene has not yet been isolated. Most of these diseases occur at low frequency, and together with small family sizes and the lack of associated cytogenetic aberrations, this characteristic has made isolation of the genes difficult. Identification of the genes responsible for inherited disorders should eventually lead to a greater understanding of biochemical and developmental pathways. We and others are attempting to find these genes by examining genes that are candidates by virtue of their map location. One candidate is the Xq28-linked gene MPP-1, which encodes the p55 protein. In this study, we asked whether mutations in the p55 gene are present in patients affected with the Xq28-linked disorders dyskeratosis congenita and Emergy-Dreifuss muscular dystrophy. The p55 cDNA is [approx]2 kb in length. The strategy for mutation detection in this sequence involved reverse transciption (RT)-PCR amplification of patient and control cDNA, yielding five sets of overlapping fragments, each set consisting of 400 bp, followed by SSCP analysis of each fragment. In no case was a true mutation in the p55 gene discovered. Therefore, itmore » is highly unlikely that mutations in the p55 gene are responsible for any cases of dyskeratosis congenita or Emergy-Dreifuss muscular dystrophy.« less

Authors:
; ; ;  [1];  [2]
  1. (Univ. of California, San Francisco, CA (United States))
  2. (Medical Univ. of South Carolina, Charleston, SC (United States))
Publication Date:
OSTI Identifier:
7160145
Alternate Identifier(s):
OSTI ID: 7160145
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 54:5; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HUMAN X CHROMOSOME; GENETIC MAPPING; MUSCLES; HEREDITARY DISEASES; NERVOUS SYSTEM; GENE MUTATIONS; CHROMOSOMES; DISEASES; HETEROCHROMOSOMES; HUMAN CHROMOSOMES; MAPPING; MUTATIONS; X CHROMOSOME 550400* -- Genetics

Citation Formats

Metzenberg, A.B., Pan, Y., Das, S., Gitschier, J., and Pai, G.S. Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Deifuss muscular dystrophy and dyskeratosis congenita. United States: N. p., 1994. Web.
Metzenberg, A.B., Pan, Y., Das, S., Gitschier, J., & Pai, G.S. Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Deifuss muscular dystrophy and dyskeratosis congenita. United States.
Metzenberg, A.B., Pan, Y., Das, S., Gitschier, J., and Pai, G.S. Sun . "Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Deifuss muscular dystrophy and dyskeratosis congenita". United States.
@article{osti_7160145,
title = {Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Deifuss muscular dystrophy and dyskeratosis congenita},
author = {Metzenberg, A.B. and Pan, Y. and Das, S. and Gitschier, J. and Pai, G.S.},
abstractNote = {Mapping studies have indicated that over two dozen genetic diseases lie on Xq28, the distal long arm of the X chromosome. In most cases the responsible gene has not yet been isolated. Most of these diseases occur at low frequency, and together with small family sizes and the lack of associated cytogenetic aberrations, this characteristic has made isolation of the genes difficult. Identification of the genes responsible for inherited disorders should eventually lead to a greater understanding of biochemical and developmental pathways. We and others are attempting to find these genes by examining genes that are candidates by virtue of their map location. One candidate is the Xq28-linked gene MPP-1, which encodes the p55 protein. In this study, we asked whether mutations in the p55 gene are present in patients affected with the Xq28-linked disorders dyskeratosis congenita and Emergy-Dreifuss muscular dystrophy. The p55 cDNA is [approx]2 kb in length. The strategy for mutation detection in this sequence involved reverse transciption (RT)-PCR amplification of patient and control cDNA, yielding five sets of overlapping fragments, each set consisting of 400 bp, followed by SSCP analysis of each fragment. In no case was a true mutation in the p55 gene discovered. Therefore, it is highly unlikely that mutations in the p55 gene are responsible for any cases of dyskeratosis congenita or Emergy-Dreifuss muscular dystrophy.},
doi = {},
journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 54:5,
place = {United States},
year = {1994},
month = {5}
}