Eggermann Thomas, Eggermann Katja, Schönherr Nadine
Institute of Human Genetics, RWTH Aachen, Aachen, Germany.
Trends Genet. 2008 Apr;24(4):195-204. doi: 10.1016/j.tig.2008.01.003. Epub 2008 Mar 7.
Human growth is a complex process that requires the appropriate interaction of many players. Central members in the growth pathways are regulated epigenetically and thereby reflect the profound significance of imprinting for correct mammalian ontogenesis. In this review, we show that the growth retardation disorder Silver-Russell syndrome (SRS) is a suitable model to decipher the role of imprinting in growth. As we will show, SRS should not only be regarded as the genetically (and clinically) opposite disease to Beckwith-Wiedemann syndrome, but it also represents the first human disorder with imprinting disturbances that affect two different chromosomes (i.e. chromosomes 7 and 11). Thus, a functional interaction between factors encoded by chromosomes 7 and 11 is likely.
人类生长是一个复杂的过程,需要众多因素的适当相互作用。生长途径中的核心成员受到表观遗传调控,从而反映出印记对于正确的哺乳动物个体发育具有深远意义。在本综述中,我们表明生长发育迟缓疾病——Silver-Russell综合征(SRS)是解读印记在生长中作用的合适模型。正如我们将展示的那样,SRS不仅应被视为与贝克威思-维德曼综合征在遗传(和临床)上相反的疾病,而且它还代表了首例因印记紊乱而影响两条不同染色体(即7号和11号染色体)的人类疾病。因此,7号和11号染色体编码的因子之间可能存在功能相互作用。