Identification of a new EGF-repeat-containing gene from human Xp22: A candidate for developmental disorders

被引:46
作者
Buchner, G [1 ]
Orfanelli, U [1 ]
Quaderi, N [1 ]
Bassi, MT [1 ]
Andolfi, G [1 ]
Ballabio, A [1 ]
Franco, B [1 ]
机构
[1] TIGEM, I-20132 Milan, Italy
关键词
D O I
10.1006/geno.2000.6146
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 [微生物学]; 0836 [生物工程]; 090102 [作物遗传育种]; 100705 [微生物与生化药学];
摘要
Epidermal growth factor (EGF) repeat-containing proteins constitute an expanding family of proteins involved in several cellular activities such as blood coagulation, fibrinolysis, cell adhesion, and neural and vertebrate development. Ey using a bioinformatic approach, we have identified a new member of this family named MAEG (MAM- and EGF-containing gene; HGMW-approved gene symbol and gene name). Sequence analysis indicates that MAEG encodes a secreted protein characterized by the presence of five EGF repeats, three of which display a Ca2+-binding consensus sequence. In addition, a MAM domain is also present at the C-terminus of the predicted protein product. The human and murine full-length cDNAs were identified and mapped to human Xp22 and to the mouse syntenic region. Northern analysis indicates that MAEG is expressed early during development. Taken together, these data render MAEG a candidate for human and murine developmental disorders. (C) 2000 Academic Press.
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页码:16 / 23
页数:8
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