Journal article

Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development

Brendan J Houston, Manon S Oud, Daniel M Aguirre, D Jo Merriner, Anne E O'Connor, Ozlem Okutman, Stephane Viville, Richard Burke, Joris A Veltman, Moira K O'Bryan

G3-GENES GENOMES GENETICS | GENETICS SOCIETY AMERICA | Published : 2020

Abstract

Globozoospermia is a rare form of male infertility where men produce round-headed sperm that are incapable of fertilizing an oocyte naturally. In a previous study where we undertook a whole exome screen to define novel genetic causes of globozoospermia, we identified homozygous mutations in the gene PDCD2L Two brothers carried a p.(Leu225Val) variant predicted to introduce a novel splice donor site, thus presenting PDCD2L as a potential regulator of male fertility. In this study, we generated a Pdcd2l knockout mouse to test its role in male fertility. Contrary to the phenotype predicted from its testis-enriched expression pattern, Pdcd2l null mice died during embryogenesis. Specifically, we ..

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Grants

Awarded by NHMRC


Funding Acknowledgements

Y BH is the recipient of a UKii Rutherford Fellowship supporting collaboration between BH, JV and MKO'B. MKO'B and JV are the recipients of an NHMRC project grant APP1120356 supporting this study. BH, DMA, AEO'C, DJM and MKO'B designed and performed experiments MSO generated and analysed the exome sequencing data.