脊髓性肌萎缩症（SMA）关键区域的临时转录图谱。
A provisional transcript map of the spinal muscular atrophy (SMA) critical region.
作者信息
van der Steege G, Draaijers T G, Grootscholten P M, Osinga J, Anzevino R, Velonà I, Den Dunnen J T, Scheffer H, Brahe C, van Ommen G J
机构信息
Department of Medical Genetics, University of Groningen, The Netherlands.
出版信息
Eur J Hum Genet. 1995;3(2):87-95. doi: 10.1159/000472281.
YACs from the region containing the spinal muscular atrophy (SMA) locus at 5q12 have been used as probes in a direct screening of cDNA libraries to isolate 8 cDNAs, mapped to different YAC fragments. Three clones showed complete identity to the genes for cyclin B1 (CCNB1), the p44 subunit of the transcription factor BTF2 (BTF2p44), and cofilin (CFL). Two clones showed partial identity to the beta-glucuronidase gene (GLCB) and a rat integral membrane glycoprotein gene (RNINMEGLA). CFL turned out to have been identified by a pseudogene sequence. Related sequences occurred on other chromosomes. CCNB1 and BTF2p44 were given an exact location. The GLCB-like gene and the RNINMEGLA-like gene detected loci on both 5q and 5p. The remaining three cDNA clones were localized to the SMA region only. Their sequences did not show identity to any gene for which a function is already known. Two of them have now turned out to be identical to recently reported candidate genes for SMA.
来自5q12包含脊髓性肌萎缩症（SMA）基因座区域的酵母人工染色体（YAC）已被用作探针，直接筛选cDNA文库以分离出8个cDNA，这些cDNA定位在不同的YAC片段上。三个克隆与细胞周期蛋白B1（CCNB1）、转录因子BTF2的p44亚基（BTF2p44）和丝切蛋白（CFL）的基因完全相同。两个克隆与β-葡萄糖醛酸酶基因（GLCB）和大鼠整合膜糖蛋白基因（RNINMEGLA）部分相同。结果发现CFL是由一个假基因序列鉴定出来的。相关序列出现在其他染色体上。CCNB1和BTF2p44被确定了确切位置。检测到的类GLCB基因和类RNINMEGLA基因在5q和5p上均有基因座。其余三个cDNA克隆仅定位在SMA区域。它们的序列与任何已知功能的基因都不相同。其中两个现已证明与最近报道的SMA候选基因相同。
Zotero 插件