Analysis of exon 1 mutations in the androgen receptor gene

Eleven mutations in exon 1 of the androgen receptor gene (AR) have been ide ntified in 15 individuals with Androgen Insensitivity syndrome (AIS), Nine of the mutations yield a stop codon directly, or due to a frameshift, in in dividuals with complete AIS (CAIS), One individual with CAIS had three diff erent mutations in exon 1: one is nominally silent (Glu 211; GAG 995 GAA); two are missense (Pro 390 Arg and Glu 443 Arg). Five unrelated individuals with either CAIS, partial AIS (PAIS) or mild AIS (MAIS) had GAG 995 GAA as their only alteration. This report almost doubles the number of exon 1 muta tions stored in the AR Mutation Database, reinforces their highly predomina nt nonsense character, and identifies Pro 390 and/or Gin 443 as residues th at are probably necessary for one or more specific functions of the AR's N- terminal transactivation domain. Hum Mutat 14:527-539, 1999, (C) 1999 Wiley -Liss, Inc.