title: Embryo implantation failure and other reproductive defects in Ube2q1-deficient female mice.
abstract: The ubiquitination process is indispensable for proteome regulation. Three classes of ubiquitin (Ub)-related proteins can be distinguished: E1, E2 and E3. Proteins from the E2 class are responsible for the transfer of Ubls from E1 to the target protein. For this activity, interaction with class E3 ligases is usually required. Ub-conjugating enzyme E2Q 1 (UBE2Q1) belongs to the E2 class of Ub-related enzymes and is demonstrated to be involved in the regulation of membrane B4GALT1 protein. Here, we demonstrate that human UBE2Q1 and mouse Ube2q1 are widely expressed and highly conserved genes. To elucidate the function of UBE2Q1 protein, we generated knockout mouse model. No overt phenotype was detected in UBE2Q1-deficient males, but in mutant females, pleiotropic reproductive defects were observed including altered oestrus cycle, abnormal sexual behaviour and reduced offspring care. Moreover, in the uterus of mutant females, significantly increased embryonic lethality and decreased implantation capacity of homozygous mutant embryos were noticed. We found that Ube2q1 is not expressed in the uterus of non-pregnant females but its expression is up-regulated during pregnancy. Taken together, Ube2q1 is involved in different aspects of female fertility.
authors.affiliation: Institute of Human Genetics, University of Göttingen, Heinrich Düker Weg 12, 37073 Göttingen, Germany. pawel.grzmil@med.uni-goettingen.de
authors.forename: Pawel
authors.initials: P
authors.lastname: Grzmil
authors.forename: Maria E
authors.initials: ME
authors.lastname: Altmann
authors.forename: Ibrahim M
authors.initials: IM
authors.lastname: Adham
authors.forename: Ulrike
authors.initials: U
authors.lastname: Engel
authors.forename: Hubertus
authors.initials: H
authors.lastname: Jarry
authors.forename: Stefan
authors.initials: S
authors.lastname: Schweyer
authors.forename: Stephan
authors.initials: S
authors.lastname: Wolf
authors.forename: Johanna
authors.initials: J
authors.lastname: Mänz
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Engel
mesh_terms: D000818:Animals; D010064:Embryo Implantation / Q000502:physiology*; D004971:Estrus / Q000502:physiology; D005260:Female; D006801:Humans; D007247:Infertility, Female / Q000378:metabolism / Q000503:physiopathology*; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D023421:Models, Animal; D011247:Pregnancy; D011270:Pregnancy, Animal / Q000502:physiology; D012098:Reproduction / Q000502:physiology; D012726:Sexual Behavior, Animal / Q000502:physiology; D044763:Ubiquitin-Conjugating Enzymes / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D014599:Uterus / Q000378:metabolism / Q000503:physiopathology*
chemical_list: C581814:UBE2Q1 protein, human; C581815:UBE2Q1 protein, mouse; D044763:Ubiquitin-Conjugating Enzymes