Cole S E, Reeves R H
Department of Physiology, Johns Hopkins Medical Institute, Baltimore, Maryland, 21205, USA.
Genomics. 1998 Dec 15;54(3):437-42. doi: 10.1006/geno.1998.5590.
A gene cluster of three to five high-cysteine keratin-associated proteins (KAPs) has been identified on mouse Chromosome 10 (MMU10) in the region of conserved linkage with human chromosome 21 (HSA21). One of these genes, Krtap12-1, has been sequenced in its entirety and shown to be an intronless gene encoding a predicted 130-amino-acid protein. Krtap12-1 is most closely related to two previously identified KAP4 genes, but variation in sequence and cysteine content suggests that it represents a new KAP family. Krtap12-1 is expressed in the skin of a 3-day-old mouse. The corresponding region of HSA21, between ITGB2 (integrin beta2) and PFKL (the liver isoform of phosphofructokinase), has proven refractory to cloning, and thus mapping of this region at high resolution has been problematic. Based on the KAP gene cluster position in mouse, evidence has been found for an orthologous human KAP cluster on HSA21q22.3, reinforcing the observation that comparative genomics can play an essential and practical role in determining mammalian genome organization.
在小鼠10号染色体（MMU10）上与人类21号染色体（HSA21）保守连锁的区域，已鉴定出一个由三到五个高半胱氨酸角蛋白相关蛋白（KAP）组成的基因簇。其中一个基因Krtap12 - 1已被完整测序，结果显示它是一个无内含子基因，编码一种预测的含130个氨基酸的蛋白质。Krtap12 - 1与之前鉴定的两个KAP4基因关系最为密切，但序列和半胱氨酸含量的差异表明它代表一个新的KAP家族。Krtap12 - 1在3日龄小鼠的皮肤中表达。HSA21上位于整合素β2（ITGB2）和磷酸果糖激酶肝脏同工型（PFKL）之间的相应区域，已证明难以克隆，因此对该区域进行高分辨率定位存在问题。基于小鼠中KAP基因簇的位置，已在HSA21q22.3上发现了一个直系同源的人类KAP簇，这进一步证明了比较基因组学在确定哺乳动物基因组组织方面可以发挥重要且实际的作用。
