The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development

Show other versions (1)

Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present st...

Full description

Bibliographic Details
Main Authors: J.L. Cunha, F.C. Soardi, R.D. Bernardi, L.E.C. Oliveira, C.E. Benedetti, G. Guerra-Junior, A.T. Maciel-Guerra, M.P. de Mello
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2011-04-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Gonadal dysgenesis
HMG-box
Missense mutation
Sex reversal SRY
Streak gonads
Testis determination
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400014&lng=en&tlng=en

Similar Items

Similar Items