Human Reproduction, Vol. 17, No. 4, 903-911,
April 2002
© 2002 European Society of Human Reproduction and Embryology
A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development
Developmental Endocrinology Branch, NICHD, National Institutes of Health, Bethesda, MD 20892, USA
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 ~63 kbp DNA at chromosome 19 and is composed of 15 exons and 14 introns. Expression of its mRNA (~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 (~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.
Key words: embryo/infertility/MATER/oocyte/premature ovarian failure
1 To whom correspondence should be addressed at: Building 10, Room 10N262, Developmental Endocrinology Branch, NICHD, NIH, 10 Center Drive, Bethesda, MD 20892-1862, USA. E-mail: tongz{at}cc1.nichd.nih.gov
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