Stella is a maternal effect gene required for normal early development in mice.
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.
Payer
Bernhard
B
Wellcome Trust/Cancer Research UK Institute of Cancer and Developmental Biology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, United Kingdom.
Saitou
Mitinori
M
Barton
Sheila C
SC
Thresher
Rosemary
R
Dixon
John P C
JP
Zahn
Dirk
D
Colledge
William H
WH
Carlton
Mark B L
MB
Nakano
Toru
T
Surani
M Azim
MA
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
D002868:Chromosomal Proteins, Non-Histone; C462180:Dppa3 protein, mouse; D012097:Repressor Proteins