PMID- 10221770
OWN - NLM
STAT- MEDLINE
DCOM- 19990623
LR  - 20190813
IS  - 0303-7207 (Print)
IS  - 0303-7207 (Linking)
VI  - 148
IP  - 1-2
DP  - 1999 Feb 25
TI  - An androgen receptor mutation in the direct vicinity of the proposed C-terminal
      alpha-helix of the ligand binding domain containing the AF-2 transcriptional
      activating function core is associated with complete androgen insensitivity.
PG  - 47-53
AB  - Subjects with androgen insensitivity syndromes (AIS) are characterized by a 46,
      XY karyotype, presence of testes, normal or elevated androgen levels in blood,
      and impairment of the usual response to androgens associated with various
      aberrations of male differentiation and virilization ranging from slightly
      undervirilized men to phenotypic females. Here we describe a novel proline to
      serine mutation in codon 892 (exon 8) of the androgen receptor in a patient with 
      complete androgen insensitivity. The mutation is located in the direct vicinity
      of the proposed C-terminal alpha-helix of the ligand binding domain containing
      the AF-2 transcriptional activating function core. Investigation of androgen
      binding in cultured testicular fibroblasts of the patient revealed a reduced AR
      binding capacity (11 fmol/mg protein) and a highly elevated Kd value (3.1 nM) in 
      comparison to control genital skin fibroblasts. Cotransfection studies with an
      androgen-responsive reporter gene revealed a diminished transactivation property 
      of the mutant androgen receptor.
FAU - Peters, I
AU  - Peters I
AD  - Department of Endocrinology and Developmental Biology, University of Dusseldorf, 
      Germany.
FAU - Weidemann, W
AU  - Weidemann W
FAU - Romalo, G
AU  - Romalo G
FAU - Knorr, D
AU  - Knorr D
FAU - Schweikert, H U
AU  - Schweikert HU
FAU - Spindler, K D
AU  - Spindler KD
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Ireland
TA  - Mol Cell Endocrinol
JT  - Molecular and cellular endocrinology
JID - 7500844
RN  - 0 (Androgens)
RN  - 0 (Receptors, Androgen)
RN  - 08J2K08A3Y (Dihydrotestosterone)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Androgen-Insensitivity Syndrome/*genetics
MH  - Androgens/blood
MH  - Base Sequence
MH  - Binding Sites
MH  - Dihydrotestosterone/metabolism
MH  - Humans
MH  - Karyotyping
MH  - Kinetics
MH  - Male
MH  - Molecular Sequence Data
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Protein Structure, Secondary
MH  - Receptors, Androgen/*chemistry/*genetics/metabolism
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
MH  - Testis/anatomy & histology
MH  - Transcriptional Activation
EDAT- 1999/04/30 00:00
MHDA- 1999/04/30 00:01
CRDT- 1999/04/30 00:00
PHST- 1999/04/30 00:00 [pubmed]
PHST- 1999/04/30 00:01 [medline]
PHST- 1999/04/30 00:00 [entrez]
AID - S0303-7207(98)00237-8 [pii]
AID - 10.1016/s0303-7207(98)00237-8 [doi]
PST - ppublish
SO  - Mol Cell Endocrinol. 1999 Feb 25;148(1-2):47-53. doi:
      10.1016/s0303-7207(98)00237-8.