Human Genetics

, Volume 101, Issue 1, pp 43–46

Codon-usage variants in the polymorphic (GGN)n trinucleotide repeat of the human androgen receptor gene

Authors

  • Rose Lumbroso
    • Lady Davis Institute, 3755 Cote Ste. Catherine Road, Montreal, Quebec H3T 1E2, Canada Tel.: +1 514 340-8260; Fax: +1 514 340-7502
  • Lenore K. Beitel
    • Lady Davis Institute, 3755 Cote Ste. Catherine Road, Montreal, Quebec H3T 1E2, Canada Tel.: +1 514 340-8260; Fax: +1 514 340-7502
  • D. Marie Vasiliou
    • Lady Davis Institute, 3755 Cote Ste. Catherine Road, Montreal, Quebec H3T 1E2, Canada Tel.: +1 514 340-8260; Fax: +1 514 340-7502
  • Mark A. Trifiro
    • Lady Davis Institute, 3755 Cote Ste. Catherine Road, Montreal, Quebec H3T 1E2, Canada Tel.: +1 514 340-8260; Fax: +1 514 340-7502
  • L. Pinsky
    • Lady Davis Institute, 3755 Cote Ste. Catherine Road, Montreal, Quebec H3T 1E2, Canada Tel.: +1 514 340-8260; Fax: +1 514 340-7502
Original investigation

DOI: 10.1007/s004390050583

Cite this article as:
Lumbroso, R., Beitel, L., Vasiliou, D. et al. Hum Genet (1997) 101: 43. doi:10.1007/s004390050583

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)nCAA 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)nCAA tract in a given hAR allele.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997