Human genes containing polymorphic trinucleotide repeats

Gregory J. Riggins; Laurie K. Lokey; Jane L. Chastain; Harold A. Leiner; Stephanie L. Sherman; Keith D. Wilkinson; Stephen T. Warren

doi:10.1038/ng1192-186

Human genes containing polymorphic trinucleotide repeats

Gregory J. Riggins, Laurie K. Lokey, Jane L. Chastain, Harold A. Leiner, Stephanie L. Sherman, Keith D. Wilkinson, Stephen T. Warren

Research output: Contribution to journal › Article › peer-review

Abstract

Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries with repeat probes and searched databases for transcribed genes with repeats. From both strategies, 40 genes were identified and 14 characterized. Five were found to contain repeats which are highly polymorphic including the N–cadherin, BCR, glutathione–S–transferase and Na⁺/K⁺ ATPase (β–subunit) genes. These data demonstrate the occurrence of other human loci which may undergo this novel mechanism of mutagenesis giving rise to genetic disease.

Original language	English (US)
Pages (from-to)	186-191
Number of pages	6
Journal	Nature genetics
Volume	2
Issue number	3
DOIs	https://doi.org/10.1038/ng1192-186
State	Published - Nov 1992
Externally published	Yes

ASJC Scopus subject areas

Genetics

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title = "Human genes containing polymorphic trinucleotide repeats",

abstract = "Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries with repeat probes and searched databases for transcribed genes with repeats. From both strategies, 40 genes were identified and 14 characterized. Five were found to contain repeats which are highly polymorphic including the N–cadherin, BCR, glutathione–S–transferase and Na+/K+ ATPase (β–subunit) genes. These data demonstrate the occurrence of other human loci which may undergo this novel mechanism of mutagenesis giving rise to genetic disease.",

author = "Riggins, {Gregory J.} and Lokey, {Laurie K.} and Chastain, {Jane L.} and Leiner, {Harold A.} and Sherman, {Stephanie L.} and Wilkinson, {Keith D.} and Warren, {Stephen T.}",

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AU - Riggins, Gregory J.

AU - Lokey, Laurie K.

AU - Chastain, Jane L.

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AU - Sherman, Stephanie L.

AU - Wilkinson, Keith D.

AU - Warren, Stephen T.

PY - 1992/11

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AB - Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries with repeat probes and searched databases for transcribed genes with repeats. From both strategies, 40 genes were identified and 14 characterized. Five were found to contain repeats which are highly polymorphic including the N–cadherin, BCR, glutathione–S–transferase and Na+/K+ ATPase (β–subunit) genes. These data demonstrate the occurrence of other human loci which may undergo this novel mechanism of mutagenesis giving rise to genetic disease.

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