Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Abstract:

:Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients. This sequence is highly variable in the normal population. PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies. Myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat containing segment up to several kilobase pairs. The CTG repeat is transcribed and is located in the 3' untranslated region of an mRNA that is expressed in tissues affected by myotonic dystrophy. This mRNA encodes a polypeptide that is a member of the protein kinase family.

journal_name

Cell

journal_title

Cell

authors

Brook JD,McCurrach ME,Harley HG,Buckler AJ,Church D,Aburatani H,Hunter K,Stanton VP,Thirion JP,Hudson T

doi

10.1016/0092-8674(92)90154-5

subject

Has Abstract,Author List Incomplete

pub_date

1992-02-21 00:00:00

pages

799-808

issue

4

eissn

0092-8674

issn

1097-4172

pii

0092-8674(92)90154-5

journal_volume

68

pub_type

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