鸡2号染色体长臂上肌肉萎缩症（AM）基因的精细定位。

Fine mapping of the muscular dystrophy (AM) gene on chicken chromosome 2q.

作者信息

Yoshizawa K, Inaba K, Mannen H, Kikuchi T, Mizutani M, Tsuji S

机构信息

Graduate School of Science and Technology, Kobe University, 1-1 Rokkoudai-cho, Nada-ku, 657-8501, Japan.

出版信息

Anim Genet. 2004 Oct;35(5):397-400. doi: 10.1111/j.1365-2052.2004.01171.x.

DOI:10.1111/j.1365-2052.2004.01171.x

PMID:15373744

Abstract

Our previous studies revealed that the genetic locus for chicken muscular dystrophy of abnormal muscle (AM) mapped to chromosome 2q, and that the region showed conserved synteny with human chromosome 8q11-24.3. In the current study, we mapped the chicken orthologues of genes from human chromosome 8q11-24 in order to identify the responsible gene. Polymorphisms in the chicken orthologues were identified in the parents of the resource family. Twenty-three genes and expressed sequence tags (ESTs) were mapped to chicken chromosome 2 by linkage analysis. The detailed comparative map shows a high conservation of synteny between chicken chromosome 2q and human chromosome 8q. The AM locus was mapped between [inositol(myo)-1(or4)-monophosphatase 1] (IMPA1) gene and [core-binding factor, runt domain, alpha-subunit 2; translocated to 1; cyclin D-related] (CBFA2T1) gene. The genes located between IMPA1 and CBFA2T1 are the most likely candidates for chicken muscular dystrophy.

摘要

我们之前的研究表明，鸡异常肌肉性肌营养不良（AM）的基因座定位于2号染色体q臂，并且该区域与人类8号染色体q11 - 24.3显示出保守的同线性。在本研究中，我们对人类8号染色体q11 - 24上的基因的鸡直系同源基因进行了定位，以确定致病基因。在资源家系的亲本中鉴定出了鸡直系同源基因中的多态性。通过连锁分析将23个基因和表达序列标签（EST）定位到鸡的2号染色体上。详细的比较图谱显示鸡2号染色体q臂与人类8号染色体q臂之间具有高度保守的同线性。AM基因座定位于[肌醇（肌醇）-1（或4）-单磷酸酶1]（IMPA1）基因和[核心结合因子， runt结构域，α亚基2；易位至1；细胞周期蛋白D相关]（CBFA2T1）基因之间。位于IMPA1和CBFA2T1之间的基因最有可能是鸡肌肉营养不良的候选基因。