Ontology highlight
ABSTRACT:
SUBMITTER: Fam BSO
PROVIDER: S-EPMC10626583 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Fam Bibiana Sampaio de Oliveira BSO Vargas-Pinilla Pedro P Paré Pâmela P Landau Luane L Viscardi Lucas H LH Pissinatti Alcides A Falótico Tiago T Maestri Renan R Bortolini Maria Cátira MC
Genetics and molecular biology 20231103 3
The current study focuses on the investigation of AVPR2 (VTR2C) protein-coupled receptor variants specific to different primate taxa. AVPR2 is activated by the neurohormone AVP, which modulates physiological processes, including water homeostasis. Our findings reveal positive selection at three AVPR2 sites at positions 190, 250, and 346. Variation at position 250 is associated with human Congenital Nephrogenic Diabetes Insipidus (cNDI), a condition characterized by excessive water loss. Other 13 ...[more]