Berchtold M W
Institute for Veterinary Biochemistry, University of Zurich, Irchel, Switzerland.
J Mol Evol. 1993 May;36(5):489-96. doi: 10.1007/BF02406724.
The chromosomal assignments of genes belonging to the EF-hand family which have a common origin are compiled in this article. So far data are available from 27 human gene loci belonging to 6 subfamilies and 8 murine loci belonging to 4 subfamilies. Chromosomal localization has been obtained by somatic-cell hybrid analysis using the Southern blot technique or PCR amplification, metaphase spread in situ hybridization, or isolation of the particular genes from chromosome-specific libraries. Except for genes of the S-100 alpha proteins which are grouped on human chromosome 1q12-25 and mouse chromosome 3, no linkage has been found for genes encoding EF-hand proteins, indicating absence of selective pressure for maintaining chromosomal clustering. Six of these genes map to known syntenic groups conserved in the human and mouse genomes. This suggests that chromosomal translocations occurred before divergence of these species. The possible significance of chromosomal positioning with respect to nearby located known genes and genetic disease loci is discussed.
本文汇总了具有共同起源的EF手型家族基因的染色体定位信息。目前,已获得来自6个亚家族的27个人类基因座和4个亚家族的8个小鼠基因座的数据。染色体定位是通过使用Southern印迹技术或PCR扩增的体细胞杂交分析、中期染色体原位杂交,或从染色体特异性文库中分离特定基因来实现的。除了聚集在人类染色体1q12 - 25和小鼠染色体3上的S - 100α蛋白基因外,未发现编码EF手型蛋白的基因之间存在连锁关系,这表明不存在维持染色体聚类的选择压力。其中6个基因定位于人类和小鼠基因组中保守的已知同线群。这表明染色体易位发生在这些物种分化之前。本文还讨论了染色体定位相对于附近已知基因和遗传疾病位点的可能意义。