van de Vosse E, Walpole S M, Nicolaou A, van der Bent P, Cahn A, Vaudin M, Ross M T, Durham J, Pavitt R, Wilkinson J, Grafham D, Bergen A A, van Ommen G J, Yates J R, den Dunnen J T, Trump D
MGC-Department of Human Genetics, Leiden University, Al Leiden, The Netherlands.
Genomics. 1998 Apr 1;49(1):96-102. doi: 10.1006/geno.1998.5224.
Using exon trapping, we have identified a new human gene in Xp22 encoding a 3-kb mRNA. Expression of this RNA is detectable in a range of tissues but is most pronounced in skeletal muscle and heart. The gene, designated "sex comb on midleg-like-1" (SCML1), maps 14 kb centromeric of marker DXS418, between DXS418 and DXS7994, and is transcribed from telomere to centromere. SCML1 spans 18 kb of genomic DNA, consists of six exons, and has a 624-bp open reading frame. The predicted 27-kDa SCML1 protein contains two domains that each have a high homology to two Drosophila transcriptional repressors of the polycomb group (PcG) genes and their homologues in mouse and human. PcG genes are known to be involved in the regulation of homeotic genes, and the mammalian homologues of the PcG genes repress the expression of Hox genes. SCML1 appears to be a new human member of this gene group and may play an important role in the control of embryonal development.
利用外显子捕获技术，我们在Xp22中鉴定出一个新的人类基因，其编码一种3 kb的mRNA。这种RNA在多种组织中均可检测到表达，但在骨骼肌和心脏中最为明显。该基因被命名为“中腿性梳状蛋白样1”（SCML1），定位于标记DXS418着丝粒侧14 kb处，位于DXS418和DXS7994之间，且从端粒向着丝粒转录。SCML1跨越18 kb的基因组DNA，由六个外显子组成，具有一个624 bp的开放阅读框。预测的27 kDa的SCML1蛋白包含两个结构域，每个结构域都与果蝇多梳蛋白组（PcG）基因的两个转录抑制因子及其在小鼠和人类中的同源物具有高度同源性。已知PcG基因参与同源异型基因的调控，而PcG基因的哺乳动物同源物可抑制Hox基因的表达。SCML1似乎是该基因家族的一个新的人类成员，可能在胚胎发育的控制中发挥重要作用。
