Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht J T, Lovett M, Evans G A
McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas 75235-8591, USA.
Nat Genet. 1996 Sep;14(1):25-32. doi: 10.1038/ng0996-25.
Hereditary multiple exostoses (EXT) is an autosomal dominant condition characterized by short stature and the development of bony protuberances at the ends of all the long bones. Three genetic locl have been identified by genetic linkage analysis at chromosomes 8q24.1, 11p11-13 and 19p. The EXT1 gene on chromosome 8 was recently identified and characterized. Here, we report the isolation and characterization of the EXT2 gene. This gene shows striking sequence similarity to the EXT1 gene, and we have identified a four base deletion segregating with the phenotype. Both EXT1 and EXT2 show significant homology with one additional expressed sequence tag, defining a new multigene family of proteins with potential tumour suppressor activity.
遗传性多发性骨软骨瘤（EXT）是一种常染色体显性疾病，其特征为身材矮小以及在所有长骨末端出现骨赘。通过基因连锁分析，已在染色体8q24.1、11p11 - 13和19p上确定了三个基因位点。位于染色体8上的EXT1基因最近已被鉴定和表征。在此，我们报告EXT2基因的分离和表征。该基因与EXT1基因显示出显著的序列相似性，并且我们已鉴定出一个与该表型共分离的四碱基缺失。EXT1和EXT2均与另一个表达序列标签显示出显著同源性，从而定义了一个具有潜在肿瘤抑制活性的新的多基因家族蛋白质。
