title: Stella is a maternal effect gene required for normal early development in mice.
abstract: stella is a novel gene specifically expressed in primordial germ cells, oocytes, preimplantation embryos, and pluripotent cells. It encodes a protein with a SAP-like domain and a splicing factor motif-like structure, suggesting possible roles in chromosomal organization or RNA processing. Here, we have investigated the effects of a targeted mutation of stella in mice. We show that while matings between heterozygous animals resulted in the birth of apparently normal stella null offspring, stella-deficient females displayed severely reduced fertility due to a lack of maternally inherited Stella-protein in their oocytes. Indeed, we demonstrate that embryos without Stella are compromised in preimplantation development and rarely reach the blastocyst stage. stella is thus one of few known mammalian maternal effect genes, as the phenotypic effect on embryonic development is mainly a consequence of the maternal stella mutant genotype. Furthermore, we show that STELLA that is expressed in human oocytes is also expressed in human pluripotent cells and in germ cell tumors. Interestingly, human chromosome 12p, which harbours STELLA, is consistently overrepresented in these tumors. These findings suggest a similar role for STELLA during early human development as in mice and a potential involvement in germ cell tumors.
authors.affiliation: Wellcome Trust/Cancer Research UK Institute of Cancer and Developmental Biology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, United Kingdom.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Payer
authors.forename: Mitinori
authors.initials: M
authors.lastname: Saitou
authors.forename: Sheila C
authors.initials: SC
authors.lastname: Barton
authors.forename: Rosemary
authors.initials: R
authors.lastname: Thresher
authors.forename: John P C
authors.initials: JP
authors.lastname: Dixon
authors.forename: Dirk
authors.initials: D
authors.lastname: Zahn
authors.forename: William H
authors.initials: WH
authors.lastname: Colledge
authors.forename: Mark B L
authors.initials: MB
authors.lastname: Carlton
authors.forename: Toru
authors.initials: T
authors.lastname: Nakano
authors.forename: M Azim
authors.initials: MA
authors.lastname: Surani
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002868:Chromosomal Proteins, Non-Histone; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005298:Fertility / Q000235:genetics / Q000502:physiology; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008297:Male; D051379:Mice / Q000196:embryology* / Q000235:genetics*; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009154:Mutation; D009865:Oocytes / Q000166:cytology / Q000502:physiology; D012097:Repressor Proteins / Q000235:genetics*; D017385:Sequence Homology; D013737:Testis / Q000166:cytology / Q000502:physiology
chemical_list: D002868:Chromosomal Proteins, Non-Histone; C462180:Dppa3 protein, mouse; D012097:Repressor Proteins