Ackerman S L, Knowles B B
The Jackson Laboratory, Bar Harbor, Maine, 04609, USA.
Genomics. 1998 Sep 1;52(2):205-8. doi: 10.1006/geno.1998.5425.
The vertebrate Unc5 genes, like their Caenorhabditis elegans counterpart, define a family of putative netrin receptors. One member of this family, Unc5h3, has been shown to have an important role during cell migration in the developing murine cerebellum. Mice homozygous for mutations in Unc5h3 are ataxic and have cerebellar hypoplasia and laminar structure defects. In addition, these mice have ectopic granule and Purkinje cells in the midbrain and brainstem. We have identified the human homologue of this gene, UNC5C, and shown it to have a restricted expression pattern in adult human tissues. By radiation hybrid analysis, we have determined that UNC5C localizes to chromosome 4q21-q23 between markers D4S1557 and D4S836 and is closely linked to the Parkinson disease gene.
脊椎动物的Unc5基因,与其线虫对应物一样,定义了一个假定的netrin受体家族。该家族的一个成员Unc5h3,已被证明在发育中的小鼠小脑中的细胞迁移过程中发挥重要作用。Unc5h3基因突变的纯合小鼠共济失调,有小脑发育不全和层状结构缺陷。此外,这些小鼠在中脑和脑干中有异位颗粒细胞和浦肯野细胞。我们已经鉴定出该基因的人类同源物UNC5C,并表明它在成人组织中具有受限的表达模式。通过辐射杂种分析,我们确定UNC5C定位于4号染色体q21-q23上,介于标记D4S1557和D4S836之间,并且与帕金森病基因紧密连锁。