Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb

被引：32

作者：

Kashiwagi, A

Meguro, M

Hoshiya, H

Haruta, M

Ishino, F

Shibahara, T

Oshimura, M

机构：

[1] Tottori Univ, Fac Med, Sch Life Sci, Dept Mol & Cellular Biol,Div Mol & Cell Genet, Yonago, Tottori 6838503, Japan

[2] Tottori Univ, Fac Med, Lab Anim Res Ctr, Yonago, Tottori 683, Japan

[3] Tokyo Inst Technol, Gene Res Ctr, Kanagawa, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2003年 / 48卷 / 04期

关键词：

Angelman syndrome; Atp10c/pfatp; tissue-specific imprinting; maternal expression; P-type ATPase;

D O I：

10.1007/s10038-003-0009-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The human chromosome 15q11-q13 region is one of the most intriguing imprinted domains, and the abnormalities inherited are associated with neurological disorders including Prader-Willi syndrome (PWS), Angelman syndrome (AS) and autism. Recently we have identified a novel maternally expressed gene, ATP10C, that encodes a putative aminophospholipid translocase within this critical region, 200 kb distal to UBE3A in an imprinted domain on human chromosome 15. A TP10C, with UBE3A, displayed tissue-specific imprinting with predominant expression of the maternal allele in the brain. In this study, we demonstrated that the mouse homologue, Atp10c/pfatp, showed tissue-specific maternal expression in the hippocampus and olfactory bulb, which overlapped the region of imprinted Ube3a expression. These data suggest that the imprinted transcript of Atp10c in the specific region of CNS may be associated with neurological disorders including AS and autism.

引用

页码：194 / 198

页数：5

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