Zeng Z, Kyaw H, Gakenheimer K R, Augustus M, Fan P, Zhang X, Su K, Carter K C, Li Y
Human Genome Sciences, Inc., Rockville, Maryland 20850, USA.
Biochem Biophys Res Commun. 1997 Jul 18;236(2):389-95. doi: 10.1006/bbrc.1997.6935.
Inactivation of the jerky gene by insertion of a transgene into the mouse genome results in epileptic seizures in transgenic mice. This finding indicates that the jerky gene plays an important role in inducing epilepsy syndromes in mice. We report here our efforts in cloning, chromosomal mapping, and analysis of tissue distribution of a novel human gene, the HHMJG, a homologue to the mouse jerky gene product. We have successfully identified a full length cDNA clone encoding a novel human protein homologous to the mouse jerky gene product. The finding was based on the result of an analysis of EST (expressed sequence tag) sequences of a clone from a human tonsil cDNA library. A 4.0 kb mRNA species of the HHMJG is abundantly expressed in the majority of human tissues examined, including brain and skeletal muscle. However, in the testes, two mRNA species of the HHMJG, approximately 2.0 and 4.0 kb, are abundantly expressed. Sequence analysis of the HHMJG cDNA indicates that it encodes a putative protein of 51 kD, which shares significant sequence homology to not only the mouse jerky gene product but also some nuclear regulatory proteins, such as centromere binding protein-B. The predicted nuclear localization of the HHMJG product suggests that this protein may function as a nuclear regulatory protein. The result of human chromosomal mapping shows that the HHMJG is located on human chromosome 11q21. Our identification of the HHMJG cDNA provides a potential gene candidate to further investigate the biological significance and clinical implications of the HHMJG in human epilepsy.
通过将转基因插入小鼠基因组使jerky基因失活，会导致转基因小鼠出现癫痫发作。这一发现表明jerky基因在诱发小鼠癫痫综合征中起重要作用。我们在此报告我们在克隆、染色体定位以及分析一种新型人类基因（HHMJG，小鼠jerky基因产物的同源物）的组织分布方面所做的工作。我们已成功鉴定出一个全长cDNA克隆，其编码一种与小鼠jerky基因产物同源的新型人类蛋白质。这一发现基于对来自人扁桃体cDNA文库的一个克隆的EST（表达序列标签）序列分析结果。HHMJG的一种4.0 kb mRNA在大多数检测的人体组织中大量表达，包括脑和骨骼肌。然而，在睾丸中，HHMJG的两种mRNA，约2.0 kb和4.0 kb，大量表达。HHMJG cDNA的序列分析表明它编码一种推定的51 kD蛋白质，该蛋白质不仅与小鼠jerky基因产物，而且与一些核调节蛋白，如着丝粒结合蛋白B，具有显著的序列同源性。HHMJG产物预测的核定位表明该蛋白质可能作为一种核调节蛋白发挥作用。人类染色体定位结果显示HHMJG位于人类11号染色体q21区。我们对HHMJG cDNA的鉴定为进一步研究HHMJG在人类癫痫中的生物学意义和临床意义提供了一个潜在的基因候选物。
