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DNA secondary structure: A common and causative factor for expansion in human disease

The discovery of unstable transmission has changed the face of genetics because it provides an alternative to the single-gene/single-trait pattern of Mendelian inheritance. More than 10 hereditary diseases are caused by instability at simple trinucleotides. Expansion causes disease when a particular... Full description

Journal Title: Proceedings of the National Academy of Sciences of the United States of America 02 March 1999, Vol.96(5), p.1823
Main Author: Cynthia T. Mcmurray
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0027-8424 ; E-ISSN: 1091-6490
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recordid: pnas_s96_5_1823
title: DNA secondary structure: A common and causative factor for expansion in human disease
format: Article
creator:
  • Cynthia T. Mcmurray
subjects:
  • Sciences (General)
ispartof: Proceedings of the National Academy of Sciences of the United States of America, 02 March 1999, Vol.96(5), p.1823
description: The discovery of unstable transmission has changed the face of genetics because it provides an alternative to the single-gene/single-trait pattern of Mendelian inheritance. More than 10 hereditary diseases are caused by instability at simple trinucleotides. Expansion causes disease when a particular base sequence is repeated beyond the normal range, interfering with the expression or properties of a gene product (1–2). As the length of the repeat grows, so also do the size of the successive expansions and the likelihood of another unstable event. This accounts for clinical anticipation in which the severity increases and the age of onset decreases in successive generations. In Huntington’s disease, for example, instability and pathogenesis are not observed at 28 repeats, occur frequently at 38 repeats, and are almost certain above 60 repeats. Although different genes are affected and different features of pathogenesis are evident, there is a common pattern of unstable transmission among the trinucleotide repeat diseases, suggesting common elements to the mechanism.
language: eng
source:
identifier: ISSN: 0027-8424 ; E-ISSN: 1091-6490
fulltext: fulltext_linktorsrc
issn:
  • 0027-8424
  • 00278424
  • 1091-6490
  • 10916490
url: Link


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