A research team led by Liu Mingxi, which belongs to the State Key Laboratory of Reproductive Medicine and the Department of Histology and Embryology of Nanjing Medical University, in cooperation with Xia Laixin’s Research Team of Southern Medical University, has revealed new mechanisms of male infertility. The research findings will be published in Proceedings of the National Academy of Sciences of the United States of America.
Using genetic manipulation of corresponding candidate loci in Drosophila following a genome-wide association study in human, the research team demonstrated that the spliceosome component SNRPA1/U2A is essential for male fertility. Loss of U2A will not affect germline stem cells or somatic cells in females. Expression of hSNRPA1, the human homologous gene of U2A, restores spermatogenesis in males. It indicates that such a function is conserved among different species. Further study revealed U2A/SNRPA1 can specifically regulate certain pre-mRNA splicing of key genes that are important for the transition from proliferation to differentiation of germ cells. Mutations in U2A/SNRPA1 may cause abnormal processing of pre-mRNA, which leads to male infertility. The study has uncovered genetic causes and molecular mechanisms underlying nonobstructive azoospermia (NOA). These results will likely provide a direction for the genetic testing and treatment of patients with NOA.
Link: http://www.pnas.org/content/early/2016/03/22/1513682113.full.pdf?with-ds=yes
Reported and Photographed by: Division of Science & Technology, State Key Laboratory of Reproductive Medicine
Translated by: Wei Miao
Edited by: Zhang Donghui
