PMID- 10571951
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20081121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 6
DP  - 1999
TI  - Analysis of exon 1 mutations in the androgen receptor gene.
PG  - 527-39
AB  - Eleven mutations in exon 1 of the androgen receptor gene (AR) have been
      identified in 15 individuals with Androgen Insensitivity syndrome (AIS). Nine of 
      the mutations yield a stop codon directly, or due to a frameshift, in individuals
      with complete AIS (CAIS). One individual with CAIS had three different 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 mutations stored in the AR Mutation
      Database, reinforces their highly predominant nonsense character, and identifies 
      Pro 390 and/or Gln 443 as residues that are probably necessary for one or more
      specific functions of the AR's N-terminal transactivation domain.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Gottlieb, B
AU  - Gottlieb B
AD  - Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General
      Hospital, McGill University, Montreal, Quebec, Canada. mc33@musica.mcgill.ca
FAU - Vasiliou, D M
AU  - Vasiliou DM
FAU - Lumbroso, R
AU  - Lumbroso R
FAU - Beitel, L K
AU  - Beitel LK
FAU - Pinsky, L
AU  - Pinsky L
FAU - Trifiro, M A
AU  - Trifiro MA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Codon, Nonsense)
RN  - 0 (Codon, Terminator)
RN  - 0 (DNA Primers)
RN  - 0 (RNA, Messenger)
RN  - 0 (Receptors, Androgen)
SB  - IM
MH  - Androgen-Insensitivity Syndrome/*genetics/metabolism
MH  - Animals
MH  - Base Sequence
MH  - COS Cells
MH  - Codon, Nonsense/genetics
MH  - Codon, Terminator/genetics
MH  - DNA Mutational Analysis
MH  - DNA Primers/genetics
MH  - Exons
MH  - Female
MH  - Frameshift Mutation
MH  - Humans
MH  - Kinetics
MH  - Male
MH  - Mutagenesis, Site-Directed
MH  - *Mutation
MH  - Mutation, Missense
MH  - Phenotype
MH  - Point Mutation
MH  - RNA, Messenger/genetics
MH  - Receptors, Androgen/*genetics/metabolism
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Transcriptional Activation
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199912)14:6<527::AID-HUMU12>3.0.CO;2-X [pii]
AID - 10.1002/(SICI)1098-1004(199912)14:6<527::AID-HUMU12>3.0.CO;2-X [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(6):527-39. doi:
      10.1002/(SICI)1098-1004(199912)14:6<527::AID-HUMU12>3.0.CO;2-X.