编码剪接因子ASF/SF2（SFRS1）和SC-35（SFRS2）的小鼠和人类基因的染色体定位。

Chromosomal localization of mouse and human genes encoding the splicing factors ASF/SF2 (SFRS1) and SC-35 (SFRS2).

作者信息

Bermingham J R, Arden K C, Naumova A K, Sapienza C, Viars C S, Fu X D, Khotz J, Manley J L, Rosenfeld M G

机构信息

University of California at San Diego, La Jolla 92093-0660, USA.

出版信息

Genomics. 1995 Sep 1;29(1):70-9. doi: 10.1006/geno.1995.1216.

DOI:10.1006/geno.1995.1216

PMID:8530103

Abstract

The mammalian SR-type splicing factors ASF/SF2 and SC-35 play crucial roles in pre-mRNA splicing and have been shown to shift splice site choice in vitro. We have mapped the ASF/SF2 gene in mice and humans and the SC-35 gene in mice. Somatic cell hybrid mapping of the human ASF/SF2 gene (SFRS1 locus) reveals that it resides on chromosome 17, and fluorescence in situ hybridization refines this localization to 17q21.3-q22. Recombinant inbred mapping of the mouse ASF/SF2 gene (Sfrs1 locus) and the mouse SC-35 gene (Sfrs2 locus) demonstrates that both genes are located in a part of mouse chromosome 11 that is homologous to human chromosome 17. Mapping of Sfrs1 using F1 hybrid backcross mice between the strains C57BL/6 and DDK places Sfrs1 very near the marker D11Mit38 and indicates that the ASF/SF2 gene is closely linked to the Ovum mutant locus.

摘要

哺乳动物的SR型剪接因子ASF/SF2和SC-35在mRNA前体剪接中发挥关键作用，并且已证实在体外能改变剪接位点的选择。我们已对小鼠和人类中的ASF/SF2基因以及小鼠中的SC-35基因进行了定位。人类ASF/SF2基因（SFRS1位点）的体细胞杂种定位显示它位于17号染色体上，荧光原位杂交将该定位精确到17q21.3-q22。小鼠ASF/SF2基因（Sfrs1位点）和小鼠SC-35基因（Sfrs2位点）的重组近交系定位表明这两个基因都位于小鼠11号染色体上与人类17号染色体同源的区域。利用C57BL/6和DDK品系之间的F1杂交回交小鼠对Sfrs1进行定位，结果显示Sfrs1非常靠近标记D11Mit38，这表明ASF/SF2基因与卵突变位点紧密连锁。