A YAC CONTIG CONTAINING THE REELER LOCUS WITH PRELIMINARY CHARACTERIZATION OF CANDIDATE GENE FRAGMENTS
A YAC CONTIG CONTAINING THE REELER LOCUS WITH PRELIMINARY CHARACTERIZATION OF CANDIDATE GENE FRAGMENTS
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DOI：
10.1016/0888-7543(95)80173-j
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发表时间：
1995-04-10
期刊：
影响因子：
4.4
通讯作者：
GOFFINET, AM
中科院分区：
文献类型：
--
作者：
BAR, I;DEROUVROIT, CL;GOFFINET, AM
小鼠的卷轴突变位于5号染色体的近端，并定义了一个参与大脑发育和进化的关键基因。目前还没有已知的基因产物，目前正在进行定位克隆，已分离到与最接近的标记D5Mit61和D5Mit72相对应的YAC克隆。克隆的YAC插入片段末端被用来构建一个1.1-Mb的重叠群，其中一段700 kb的片段包含卷轴基因座。通过对基因组DNA的物理定位，验证了重叠群的完整性。经典的Reeler突变等位基因与D5Mit61和D5Mit72之间150kb的缺失相关，而Orleans等位基因未发现明显的染色体异常。分离候选编码序列以构建卷轴区域的初步转录图谱。在rl缺失的Cosmid克隆图谱中发现了一个超过11kb的大转录本，该转录本存在于正常胚胎脑中，但在纯合子rl(Orl)/rl(Orl)胚胎脑中几乎检测不到，这有力地表明它与Reeler转录本相对应。(C)1995年学术出版社。
The reeler mutation in the mouse maps to proximal chromosome 5 and defines a key gene involved in brain development and evolution. No gene product is known, and the locus is currently being characterized by positional cloning, YAC clones corresponding to the closest markers D5Mit61 and D5Mit72 have been isolated. Cloned extremities of the YAC inserts were used to construct a 1.1-Mb contig, a 700-kb fragment of which was shown to contain the reeler locus. The integrity of the contig was verified by physical mapping on genomic DNA. The classical allele of the reeler mutation was associated with a 150-kb deletion between D5Mit61 and D5Mit72, while no gross chromosomal anomaly was found in the Orleans allele. Candidate coding sequences were isolated to construct a preliminary transcriptional map of the reeler region. Cosmid clones mapping within the rl deletion revealed a large transcript of more than 11 kb, which was present in normal embryonic brain but barely detectable in homozygous rl(Orl)/rl(Orl) embryonic brain, suggesting strongly that it corresponds to the reeler transcript. (C) 1995 Academic Press, Inc.