Sasaki N, Hayashizaki Y, Muramatsu M, Matsuda Y, Ando Y, Kuramoto T, Serikawa T, Azuma T, Naito A, Agui T
RIKEN Tsukuba Life Science Center, Institute of Physical and Chemical Research, Ibaraki, Japan.
Biochem Biophys Res Commun. 1994 Jul 15;202(1):512-8. doi: 10.1006/bbrc.1994.1958.
We identified the rat homolog to the human Wilson disease (WD) gene as the gene responsible for hepatitis (hts) in the Long Evans Cinnamon (LEC) rat. A genetic study using fifty-three backcross progenies showed that the rat WD gene detected by Southern blotting using the human WD gene as a probe was tightly linked to the hts phenotype of the LEC rat with no recombination. LEC is a transcriptionally deficient mutant because no transcript of the rat WD gene could be found in the LEC rat by Northern blotting. This rat WD gene was mapped to 16q12.23-12.3 by fluorescence in situ hybridization and mouse x rat somatic cell hybrid analysis.
我们鉴定出大鼠中与人类威尔逊病(WD)基因同源的基因是长 Evans 肉桂色(LEC)大鼠肝炎(hts)的致病基因。一项对 53 个回交后代的遗传学研究表明,用人 WD 基因作为探针通过 Southern 印迹检测到的大鼠 WD 基因与 LEC 大鼠的 hts 表型紧密连锁,无重组现象。LEC 是一种转录缺陷型突变体,因为通过 Northern 印迹在 LEC 大鼠中未发现大鼠 WD 基因的转录本。通过荧光原位杂交和小鼠×大鼠体细胞杂交分析,该大鼠 WD 基因被定位到 16q12.23 - 12.3。