Peters L L, Weier H U, Walensky L D, Snyder S H, Parra M, Mohandas N, Conboy J G
The Jackson Laboratory, Bar Harbor, Maine, 04609, USA.
Genomics. 1998 Dec 1;54(2):348-50. doi: 10.1006/geno.1998.5537.
Four highly conserved members of the skeletal protein 4.1 gene family encode a diverse array of protein isoforms via tissue-specific transcription and developmentally regulated alternative pre-mRNA splicing. In addition to the prototypical red blood cell 4.1R (human gene symbol EPB41,) these include two homologues that are strongly expressed in the brain (4.1N, EPB41L1; and 4.1B, EPB41L3) and another that is widely expressed in many tissues (4.1G, EPB41L2). As part of a study on the structure and evolution of the 4.1 genes in human and mouse, we have now completed the chromosomal mapping of their respective loci by reporting the localization of mouse 4.1N, 4.1G, and 4.1B, as well as human 4.1B. For the mouse 4.1 genes, Southern blot analysis of RFLPs in The Jackson Laboratory BSS interspecific backcross yielded the following assignments: 4.1N (Epb4.1l1,) chromosome 2; 4.1G (Epb4.1l2,) chromosome 10; and 4.1B (Epb4.1l3,) mouse chromosome 17. Human 4.1B was physically mapped to chromosome 18p11 using fluorescence in situ hybridization. All of the mouse genes mapped within or adjacent to regions of conserved synteny with corresponding human chromosomes. We conclude that a set of four paralogous 4.1 genes has been evolutionarily conserved in rodents and primates.
骨骼蛋白4.1基因家族的四个高度保守成员，通过组织特异性转录和发育调控的可变前体mRNA剪接，编码多种蛋白质异构体。除了典型的红细胞4.1R（人类基因符号EPB41）外，这些成员还包括在大脑中强烈表达的两个同源物（4.1N，EPB41L1；和4.1B，EPB41L3），以及在许多组织中广泛表达的另一个同源物（4.1G，EPB41L2）。作为对人类和小鼠4.1基因的结构与进化研究的一部分，我们现在通过报告小鼠4.1N、4.1G和4.1B以及人类4.1B的定位，完成了它们各自基因座的染色体定位。对于小鼠4.1基因，在杰克逊实验室BSS种间回交中对RFLP进行的Southern印迹分析得出以下定位结果：4.1N（Epb4.1l1）位于2号染色体；4.1G（Epb4.1l2）位于10号染色体；4.1B（Epb4.1l3）位于小鼠17号染色体。使用荧光原位杂交技术将人类4.1B物理定位到18p11染色体。所有小鼠基因都定位在与相应人类染色体保守同线性区域内或附近。我们得出结论，一组四个旁系同源的4.1基因在啮齿动物和灵长类动物中在进化上是保守的。
