Danielson P E, Watson J B, Gerendasy D D, Erlander M G, Lovenberg T W, de Lecea L, Sutcliffe J G, Frankel W N
Scripps Research Institute, Department of Molecular Biology, La Jolla, California 92037.
Genomics. 1994 Feb;19(3):454-61. doi: 10.1006/geno.1994.1094.
We have used RFLP analysis on DNA from a panel of interspecific (C57BL/6J x Mus spretus) F1 x M. spretus backcross offspring to assign the genes encoding 10 neuron-specific mRNAs and 2 loci corresponding to cyclophilin 2-related sequences to the mouse chromosomal map. The Pss1 locus encoding the forebrain-enriched protein kinase C substrate RC3, a component of dendritic spines, mapped to proximal Chr 9. The Camkl locus encoding the calmodulin-binding protein kinase-like vesicle protein 1G5 mapped to distal Chr 9. The Gng7 locus encoding the gamma 7 G-protein subunit, highly enriched in the striatum and presumptively coupled to dopamine receptors, mapped to mid-Chr 10. The Htr1f, Htr5a, Htr5b, and Htr7loci, encoding four serotonin receptors, mapped to Chr 16, 5, 1, and 19, respectively. The Peplb locus, encoding a CD26 ectopeptidase-like neuronal membrane protein activated by kainate and long-term potentiation, mapped to Chr 5. The D2Sut1e and Cpu3 loci, encoding neural proteins of unknown functions, mapped to Chrs 2 and 9, respectively. Two cyclophilin 2-related loci, Cphn2-r1 and Cphn2-r2, mapped to different regions of Chr 9. Comparison of these 12 newly mapped loci with the existing mouse map and known regions of syntenic homology with the human map, along with the known features and expression profiles of the products of these genes, suggests a few candidates for mouse mutations and human neurological and immunological deficits, including the Tourette syndrome and Bloom syndrome genes.
我们利用限制性片段长度多态性（RFLP）分析技术，对一组种间（C57BL/6J×小家鼠）F1×小家鼠回交后代的DNA进行分析，以便将编码10种神经元特异性mRNA的基因以及与亲环蛋白2相关序列对应的2个基因座定位到小鼠染色体图谱上。编码前脑富集蛋白激酶C底物RC3（树突棘的一个组成部分）的Pss1基因座定位于9号染色体近端。编码钙调蛋白结合蛋白激酶样囊泡蛋白1G5的Camkl基因座定位于9号染色体远端。编码γ7 G蛋白亚基（在纹状体中高度富集，推测与多巴胺受体偶联）的Gng7基因座定位于10号染色体中部。分别编码4种5-羟色胺受体的Htr1f、Htr5a、Htr5b和Htr7基因座，分别定位于16号、5号、1号和19号染色体。编码一种由红藻氨酸和长时程增强激活的CD26外肽酶样神经元膜蛋白的Peplb基因座定位于5号染色体。分别编码功能未知的神经蛋白的D2Sut1e和Cpu3基因座，分别定位于2号和9号染色体。两个与亲环蛋白2相关的基因座Cphn2-r1和Cphn2-r2，定位于9号染色体的不同区域。将这12个新定位的基因座与现有的小鼠图谱以及与人类图谱的已知同线性同源区域进行比较，再结合这些基因产物的已知特征和表达谱，提示了一些小鼠突变以及人类神经和免疫缺陷的候选基因，包括抽动秽语综合征和布卢姆综合征基因。
