Müller-Seitz M, Kaupmann K, Labeit S, Jockusch H
Developmental Biology Unit, University of Bielefeld, Federal Republic of Germany.
Genomics. 1993 Dec;18(3):559-61. doi: 10.1016/s0888-7543(05)80356-8.
In the mouse, the genes for the structural components of the myofibril titin and nebulin, Ttn and Neb, map to proximal Chr 2, as does the gene for a muscle disease, "muscular dystrophy with myositis," mdm. To facilitate the evaluation of Ttn and Neb as possible candidates for mdm, we have determined their relative map positions, using a Mus spretus/Mus musculus interspecific backcross. The gene order (distances in cM) cenVim-16.9 +/- 4.7-Neb-7.6 +/- 3.0-Ttn, Acra-18.0 +/- 4.9-Pax-6-17.7 +/- 4.9-a ... has been determined. Considering the standard deviations, Neb, Ttn, and Acra could colocalize with mdm. Using Ttn and Neb probes, DNAs from mdm/mdm and mdm/+ mice were tested for restriction fragment variants in comparison to the M. musculus wildtype. No variants have been found with 11 restriction nucleases. Our data corroborate a conserved synteny comprising genes NEB, TTN, CHRNA1 on human Chr 2q.
在小鼠中，肌原纤维肌联蛋白和伴肌动蛋白的结构成分基因Ttn和Neb，以及一种肌肉疾病“伴肌炎的肌营养不良”（mdm）的基因，都定位于近端2号染色体。为便于评估Ttn和Neb作为mdm可能候选基因的可能性，我们利用小家鼠/斯氏小家鼠种间回交确定了它们的相对图谱位置。已确定基因顺序（以厘摩计的距离）为：着丝粒-Vim-16.9±4.7-Neb-7.6±3.0-Ttn，Acra-18.0±4.9-Pax-6-17.7±4.9-a…。考虑到标准差，Neb、Ttn和Acra可能与mdm共定位。使用Ttn和Neb探针，与小家鼠野生型相比，检测了mdm/mdm和mdm/+小鼠的DNA中的限制性片段变体。用11种限制性核酸酶未发现变体。我们的数据证实了人类2号染色体q臂上由NEB、TTN、CHRNA1基因组成的保守同线性。
