Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.

ABSTRACT:

Background

Bone morphogenetic protein 15 (BMP15) is expressed in oocytes and plays a crucial role in the reproduction of mono-ovulating species. In humans, BMP15 gene mutations lead to imperfect protein function and premature ovarian insufficiency. Here we investigated the BMP15 gene variants in a population of Iranian women with premature ovarian insufficiency. We conducted predictive bioinformatics analysis to further study the outcomes of BMP15 gene alterations.

Methods

Twenty-four well-diagnosed premature ovarian insufficiency cases with normal karyotype participated in this study. The entire coding sequence and exon-intron junctions of the BMP15 gene were analyzed by direct sequencing. In-silico analysis was applied using various pipelines integrated into the Ensembl Va

SUBMITTER: Afkhami F 

PROVIDER: S-EPMC8886931 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature