CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development.
Gene products linked to microcephaly have been studied foremost for their role in brain development, while their function in the development of other organs has been largely neglected. Here, we report the critical role of Cdk5rap2 in maintaining the germ cell pool during embryonic development. We highlight that infertility in Cdk5rap2 mutant mice is secondary to a lack of spermatogenic cells in adult mice as a result of an early developmental defect in the germ cells through mitotic delay, prolonged cell cycle, and apoptosis.
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany; Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin Institute of Health (BIH), Kapelle-Ufer 2, 10117 Berlin, Germany.
Sami
S
Zaqout
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany.
Paraskevi
P
Bessa
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany; Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin Institute of Health (BIH), Kapelle-Ufer 2, 10117 Berlin, Germany.
Nadine
N
Krämer
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany.
Gisela
G
Stoltenburg-Didinger
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany; Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin Institute of Health (BIH), Kapelle-Ufer 2, 10117 Berlin, Germany. Electronic address: angela.kaindl@charite.de.
Angela M
AM
Kaindl
D000818:Animals; D002453:Cell Cycle / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000378:metabolism; D047108:Embryonic Development / Q000235:genetics*; D005260:Female; D005804:Genes, Lethal; D056726:Genetic Association Studies; D005838:Genotype; D005854:Germ Cells / Q000166:cytology / Q000378:metabolism*; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008954:Models, Biological; D009154:Mutation; D010641:Phenotype
C549613:Cdk5rap2 protein, mouse; D018797:Cell Cycle Proteins
CDK5RAP2; MCPH; apoptosis; cell cycle; germline; infertility; intellectual disability; microcephaly; mitotic delay