Kobayashi S, Kohda T, Miyoshi N, Kuroiwa Y, Aisaka K, Tsutsumi O, Kaneko-Ishino T, Ishino F
Gene Research Center, Tokyo Institute of Technology, Midori-ku, Yokohama, Japan.
Hum Mol Genet. 1997 May;6(5):781-6. doi: 10.1093/hmg/6.5.781.
The mouse Peg1/Mest gene is an imprinted gene that is expressed particularly in mesodermal tissues in early embryonic stages. It was the most abundant imprinted gene among eight paternally expressed genes (Peg 1-8) isolated by a subtraction-hybridization method from a mouse embryonal cDNA library. It has been mapped to proximal mouse chromosome 6, maternal duplication of which causes early embryonic lethality. The human chromosomal region that shares syntenic homology with this is 7q21-qter, and human maternal uniparental disomy 7 (UPD 7) causes apparent growth deficiency and slight morphological abnormalities. Therefore, at least one paternally expressed imprinted gene seems to be present in this region. In this report, we demonstrate that human PEG1/MEST is an imprinted gene expressed from a paternal allele and located on chromosome 7q31-34, near D7S649. It is the first imprinted gene mapped to human chromosome 7 and a candidate for a gene responsible for primordial growth retardation including Silver-Russell syndrome (SRS).
小鼠Peg1/Mest基因是一个印记基因，在胚胎发育早期特别在中胚层组织中表达。它是通过消减杂交法从小鼠胚胎cDNA文库中分离出的八个父源表达基因（Peg 1 - 8）中表达量最高的印记基因。它已被定位到小鼠近端6号染色体上，其母源重复会导致胚胎早期致死。与该区域具有同线性同源性的人类染色体区域是7q21 - qter，人类母源单亲二体7（UPD 7）会导致明显的生长发育迟缓及轻微的形态异常。因此，该区域似乎至少存在一个父源表达的印记基因。在本报告中，我们证明人类PEG1/MEST是一个从父源等位基因表达的印记基因，位于7号染色体q31 - 34区域，靠近D7S649。它是第一个定位到人类7号染色体上的印记基因，也是包括Silver - Russell综合征（SRS）在内的原发性生长发育迟缓相关基因的候选基因。
