Codon-usage variants in the polymorphic (GGN)
n
trinucleotide repeat of the human androgen receptor gene |
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| Authors: | Rose Lumbroso Lenore K Beitel D Marie Vasiliou Mark A Trifiro L Pinsky |
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| Institution: | (1) Lady Davis Institute, 3755 Cote Ste. Catherine Road, Montreal, Quebec H3T 1E2, Canada Tel.: +1 514 340-8260; Fax: +1 514 340-7502, CA;(2) Department of Biology, McGill University, Montreal, Quebec H3A 1B1, Canada, CA;(3) Department of Medicine, McGill University, Montreal, Quebec H3A 1B1, Canada, CA;(4) Departments of Human Genetics and Pediatrics, McGill University, Montreal, Quebec H3A 1B1, Canada, CA |
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| Abstract: | The human androgen receptor gene (hAR) has a long, polymorphic trinucleotide (GGN; glycine)
n
repeat in the 3′ portion of its first exon, with n = 10–31. Owing to technical difficulties that have precluded routine sequencing of this region, it is widely unknown that
N represents T, G or C, and that the usual sense codon sequence of the GGN tract is (GGT)3GGG(GGT)2(GGC)4–25. Furthermore, on 4 of 61 X chromosomes, we observed that the internal GGT sequence was present three or four times instead
of twice. Strikingly, each of the three alleles with an internal (GGT)3, and only these three, also had a (GGC)20 repeat. The size or composition of a (GGN)
n
repeat was not correlated with the length of the accompanying (CAG)
n
CAA repeat in the 5′ portion of exon one. Hence, codon-usage variants of the GGN tract may be used to seek associations with
particular diseases, as diagnostic aids in families with androgen insensitivity whose AR mutations have not yet been identified, or as internal controls for observations on intergenerational contractions or expansions
of the (CAG)
n
CAA tract in a given hAR allele.
Received: 28 May 1997 / Accepted: 22 July 1997 |
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