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 | |
| State | Published - Jan 1 1992 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
Cite this
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 journal › Article
}
TY - JOUR
T1 - Human genes containing polymorphic trinucleotide repeats
AU - Riggins, Gregory J
AU - Lokey, Laurie K.
AU - Chastain, Jane L.
AU - Leiner, Harold A.
AU - Sherman, Stephanie L.
AU - Wilkinson, Keith D.
AU - Warren, Stephen T.
PY - 1992/1/1
Y1 - 1992/1/1
N2 - 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.
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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U2 - 10.1038/ng1192-186
DO - 10.1038/ng1192-186
M3 - Article
C2 - 1345166
AN - SCOPUS:84970050019
VL - 2
SP - 186
EP - 191
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 3
ER -