Mills K A, Mathews K D, Scherpbier-Heddema T, Schelper R L, Schmalzel R, Bailey H L, Nadeau J H, Buetow K H, Murray J C
Department of Pediatrics, University of Iowa, Iowa City 52242, USA.
Mamm Genome. 1995 Apr;6(4):278-80. doi: 10.1007/BF00352416.
Myodystrophy (myd), an autosomal recessive mutation of the mouse characterized by progressive weakness and dystrophic muscle histology, maps to the central portion of Chromosome (Chr) 8 (Lane et al. J. Hered 67, 135, 1976). This portion of Chr 8 contains the genes for a mitochondrial uncoupling protein (Ucp) and kallikrein (Kal3), which map to distal 4q in the human, providing evidence for a segment of homology. Characteristics of the myd phenotype coupled with this homology suggest that myd may be a mouse homolog of facioscapulohumeral muscular dystrophy (FSHD), which maps to human 4q35. We have confirmed and expanded the region of mouse 8-human 4 homology by generating a map of Chr 8 in an interspecific backcross of C57BL/6J and a partially inbred strain derived from M. spretus. The map is comprised of the genes for Ucp, coagulation factor XI (Cfl1), and chloride channel 5 (Clc5), all of which have homologs on distal human 4q, 15 microsatellite loci, and the membrane cofactor protein pseudogene (Mcp-ps). To place myd in the genetic map, 75 affected progeny from an intersubspecific backcross of animals heterozygous for myd with Mus musculus castaneus were genotyped with Chr 8 microsatellite loci. The mutation maps between D8Mit30 and D8Mit75, an interval that is flanked by genes with human homologs at distal 4q. These results are consistent with the possibility that myd is the mouse homolog of FSHD.
肌营养不良症（myd）是小鼠的一种常染色体隐性突变，其特征为进行性肌无力和营养不良性肌肉组织学改变，该突变基因定位于第8号染色体（Chr）的中部（Lane等人，《遗传学期刊》67卷，第135页，1976年）。第8号染色体的这一部分包含线粒体解偶联蛋白（Ucp）和激肽释放酶（Kal3）的基因，这些基因在人类中定位于4号染色体长臂远端，这为同源片段提供了证据。myd表型的特征以及这种同源性表明，myd可能是面肩肱型肌营养不良症（FSHD）的小鼠同源物，后者定位于人类4q35。我们通过在C57BL/6J和源自小家鼠的部分近交系之间的种间回交中生成第8号染色体图谱，证实并扩展了小鼠8号染色体与人类4号染色体的同源区域。该图谱由Ucp、凝血因子XI（Cfl1）和氯离子通道5（Clc5）的基因组成，所有这些基因在人类4号染色体长臂远端都有同源物，还有15个微卫星位点以及膜辅助因子蛋白假基因（Mcp-ps）。为了将myd定位到遗传图谱上，对75只来自myd杂合动物与栗色小家鼠种间回交的患病后代进行了第8号染色体微卫星位点的基因分型。该突变定位于D8Mit30和D8Mit75之间，这个区间两侧是在4号染色体长臂远端具有人类同源物的基因。这些结果与myd是FSHD的小鼠同源物这一可能性相符。
