Searchable abstracts of presentations at key conferences in endocrinology

ea0004s15 | Transcriptional control of endocrine development and function | SFE2002

Genetic Control of Sex Differentiation

Hughes I , Martin H , Jaaskelainen J

Sex differentiation is the development of the internal and external genitalia following gonad determination. Genital ridge formation is regulated by WT1, SF1 and LHX9 whereas SRY is a major player in testis determination. Quite how SRY functions as a transcription factor is still unknown twelve years after the (i)SRY(/i) gene was cloned. How testis determination is regulated is incomplete, as the cause of sex reversal is unknown in the majority of patients with XY gonadal dysg...

ea0005p242 | Steroids | BES2003

Functional analysis of the N/C interactions in the AR

Stol K , Martin H , Jaaskelainen J , Hughes I

The Androgen Receptor (AR) is a ligand dependent transcription factor that regulates the development and maintenance of the male reproductive system. Previous studies in AIS have demonstrated ligand binding domain mutations resulting in decreased trans-activation activity through reduced N-terminal/C-terminal interaction of the AR, despite unaltered ligand binding ability.We have introduced mutations in the hinge region of the Androgen Receptor (AR) and assessed the effect...

ea0003p156 | Genetics | BES2002

Seven novel mutations in the androgen receptor gene associated with complete androgen insensitivity syndrome

Jaaskelainen J , Mongan N , Martin H , Hughes I

Complete androgen insensitivity syndrome (CAIS), is generally caused by a mutation in the androgen receptor (AR) gene. In sequencing genomic DNA from patients with CAIS, we identified 7 novel mutations in the AR. Their effects on AR function are speculated in relation to AR functional domains and crystal structure. Local Ethical Committee approval was obtained for the use of patient samples.Exon 1 mutations, Q86X and Y480X, are located in the transactiv...