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 journalArticle

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 languageEnglish (US)
Pages (from-to)186-191
Number of pages6
JournalNature genetics
Volume2
Issue number3
DOIs
StatePublished - Jan 1 1992
Externally publishedYes

Fingerprint

Trinucleotide Repeats
Genes
Trinucleotide Repeat Expansion
Atrophic Muscular Disorders
Fragile X Syndrome
Myotonic Dystrophy
Inborn Genetic Diseases
Gene Library
Mutagenesis
Databases
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

Riggins, G. J., Lokey, L. K., Chastain, J. L., Leiner, H. A., Sherman, S. L., Wilkinson, K. D., & Warren, S. T. (1992). Human genes containing polymorphic trinucleotide repeats. Nature genetics, 2(3), 186-191. https://doi.org/10.1038/ng1192-186

Human genes containing polymorphic trinucleotide repeats. / Riggins, Gregory J; Lokey, Laurie K.; Chastain, Jane L.; Leiner, Harold A.; Sherman, Stephanie L.; Wilkinson, Keith D.; Warren, Stephen T.

In: Nature genetics, Vol. 2, No. 3, 01.01.1992, p. 186-191.

Research output: Contribution to journalArticle

Riggins, GJ, Lokey, LK, Chastain, JL, Leiner, HA, Sherman, SL, Wilkinson, KD & Warren, ST 1992, 'Human genes containing polymorphic trinucleotide repeats', Nature genetics, vol. 2, no. 3, pp. 186-191. https://doi.org/10.1038/ng1192-186
Riggins GJ, Lokey LK, Chastain JL, Leiner HA, Sherman SL, Wilkinson KD et al. Human genes containing polymorphic trinucleotide repeats. Nature genetics. 1992 Jan 1;2(3):186-191. https://doi.org/10.1038/ng1192-186
Riggins, Gregory J ; Lokey, Laurie K. ; Chastain, Jane L. ; Leiner, Harold A. ; Sherman, Stephanie L. ; Wilkinson, Keith D. ; Warren, Stephen T. / Human genes containing polymorphic trinucleotide repeats. In: Nature genetics. 1992 ; Vol. 2, No. 3. pp. 186-191.
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