A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development

被引：84

作者：

Tong, ZB ^{[1
]}

Bondy, CA ^{[1
]}

Zhou, J ^{[1
]}

Nelson, LM ^{[1
]}

机构：

[1] NICHHD, Dev Endocrinol Branch, NIH, Bethesda, MD 20892 USA

来源：

HUMAN REPRODUCTION | 2002年 / 17卷 / 04期

关键词：

embryo; infertility; MATER; oocyte; premature ovarian failure;

D O I：

10.1093/humrep/17.4.903

中图分类号：

R71 [妇产科学];

学科分类号：

100211 [妇产科学];

摘要：

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 similar to63 kbp DNA at chromosome 19 and is composed of 15 exons and 14 introns. Expression of its mRNA (similar to4.2 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 (similar to134 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.

引用

页码：903 / 911

页数：9

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