A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development.
BACKGROUND
Mater is a maternal effect gene required for early embryonic development in mice, and its protein serves as an autoantigen in a mouse model of autoimmune premature ovarian failure.


METHODS
Human MATER cDNA was cloned by PCR techniques. The mRNA and protein were determined using hybridization and immunodetection respectively. The cDNA and protein sequences were analysed using bioinformatics software.


RESULTS
Human MATER gene spans a approximately 63 kbp DNA at chromosome 19 and is composed of 15 exons and 14 introns. Expression of its mRNA (approximately 4.2 kb) is restricted to the oocytes. Human MATER cDNA (3885 nt) shows an open reading frame (3600 nt) encoding a polypeptide chain composed of 1200 residues with a predicted molecular mass of 134 236 Da. MATER protein (approximately 134 kDa) was detected in human oocytes. The human and mouse cDNA share 67% homology while their deduced polypeptide chains have 53% identity of amino acids. Also, their protein structures have a number of similar features.


CONCLUSIONS
The human MATER and mouse Mater genes and proteins are conserved. Characterization of the human MATER and its protein provides a basis for investigating their clinical implications in autoimmune premature ovarian failure and infertility in women.
Tong
Zhi-Bin
ZB
Developmental Endocrinology Branch, NICHD, National Institutes of Health, Bethesda, MD 20892, USA. tongz@cc1.nichd.nih.gov
Bondy
Carolyn A
CA
Zhou
Jian
J
Nelson
Lawrence M
LM
D000595:Amino Acid Sequence / Q000235:genetics; D000818:Animals; D000941:Antigens; D001483:Base Sequence / Q000235:genetics; D002874:Chromosome Mapping; D017124:Conserved Sequence; D018076:DNA, Complementary / Q000235:genetics / Q000302:isolation & purification; D004527:Egg Proteins / Q000235:genetics* / Q000378:metabolism; D004622:Embryo, Mammalian / Q000502:physiology*; D005314:Embryonic and Fetal Development / Q000502:physiology; D005260:Female; D005796:Genes; D016678:Genome; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009865:Oocytes / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D017386:Sequence Homology, Amino Acid
D000941:Antigens; D018076:DNA, Complementary; D004527:Egg Proteins; C416503:Nalp5 protein, mouse; D012333:RNA, Messenger