| Simple tandem DNA repeats and human genetic disease. | |
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MedLine Citation:
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PMID: 7731957 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The human genome contains many repeated DNA sequences that vary in complexity of repeating unit from a single nucleotide to a whole gene. The repeat sequences can be widely dispersed or in simple tandem arrays. Arrays of up to 5 or 6 nt are known as simple tandem repeats, and these are widely dispersed and highly polymorphic. Members of one group of the simple tandem repeats, the trinucleotide repeats, can undergo an increase in copy number by a process of dynamic mutation. Dynamic mutations of the CCG trinucleotide give rise to one group of fragile sites on human chromosomes, the rare folate-sensitive group. One member of this group, the fragile X (FRAXA) is responsible for the most common familial form of mental retardation. Another member of the group FRAXE is responsible for a rarer mild form of mental retardation. Similar mutations of AGC repeats give rise to a number of neurological disorders. The expanded repeats are unstable between generations and somatically. The intergenerational instability gives rise to unusual patterns of inheritance--particularly anticipation, the increasing severity and/or earlier age of onset of the disorder in successive generations. Dynamic mutations have been found only in the human species, and possible reasons for this are considered. The mechanism of dynamic mutation is discussed, and a number of observations of simple tandem repeat mutation that could assist in understanding this phenomenon are commented on. |
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Authors:
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G R Sutherland; R I Richards |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Proceedings of the National Academy of Sciences of the United States of America Volume: 92 ISSN: 0027-8424 ISO Abbreviation: Proc. Natl. Acad. Sci. U.S.A. Publication Date: 1995 Apr |
Date Detail:
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Created Date: 1995-06-01 Completed Date: 1995-06-01 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 7505876 Medline TA: Proc Natl Acad Sci U S A Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 3636-41 Citation Subset: IM |
Affiliation:
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Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Mapping Chromosomes, Human* DNA / genetics* Fragile X Mental Retardation Protein Fragile X Syndrome / genetics Genetic Diseases, Inborn / genetics* Genome, Human* Humans Mental Retardation / genetics Nerve Tissue Proteins / genetics Point Mutation RNA-Binding Proteins* Repetitive Sequences, Nucleic Acid* X Chromosome |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein; 9007-49-2/DNA |
| Comments/Corrections | |
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