Ontology highlight
ABSTRACT:
SUBMITTER: Castro JJ
PROVIDER: S-EPMC3753129 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Castro Josué Joram JJ Méndez Juan Pablo JP Coral-Vázquez Ramón Mauricio RM Soriano-Ursúa Marvin Antonio MA Damian-Matsumura Pablo P Benítez-Granados Jesús J Rosas-Vargas Haydee H Canto Patricia P
DNA and cell biology 20130620 9
Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mixed gonadal dysgenesis (MGD); however, there have been no functional studies of mutations described in DHH. To determine if mutations p.L162P and Δ1086delG yield functional impairment, we performed in vitro and in silico analysis of both DHH mutants. In complementary DNA of DHH, we performed site-directed mutagenesis, which was confirmed by DNA sequencing. Protein extracts were obtained from H ...[more]