Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS
Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS
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DOI：
10.1093/hmg/9.9.1443
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发表时间：
2000-05-22
影响因子：
3.5
通讯作者：
Banfi, S
中科院分区：
文献类型：
--
作者：
Bulfone, A;Menguzzato, E;Banfi, S
果蝇的BarH1和BarH2（Bar）基因是含有同源框的基因，它们是果蝇外部感觉器官命运决定所必需的。通过生物信息学方法，我们在小鼠和人类中鉴定了两个与Bar果蝇基因高度相关的同源盒基因，Barhl1和Barhl2。Barhl1是一个新的基因，Barhl2与最近在大鼠中描述的mBH 1 cDNA相对应。我们分离并测序了全长小鼠Barhl1，并将人BARHL1和BARHL2基因分别定位于染色体9q34和1p22。通过原位杂交对小鼠Barhl1表达模式的详细分析显示，该转录本仅在发育中的CNS的限制性结构域中表达，这表明该基因与果蝇的对应物BarH1和BarH2相似：可能在神经结构的细胞命运决定中起关键作用。特别是，Barhl1表现出特定领域的间脑和菱脑中的表达，它被发现在迁移细胞引起的小脑外颗粒层和特定群体的脊髓背侧感觉中间神经元。因此，Barhl1功能可能是产生这些特定亚型的神经元祖细胞所必需的。此外，映射分配和表达模式使BARHL 1成为一种Joubert综合征（一种罕见的人类小脑发育异常）的有吸引力的位置候选基因。
The BarH1 and BarH2 (Bar) Drosophila genes are homeobox-containing genes, which are required for the fate determination of external sensory organs in the fly. By means of a bioinformatic approach, we have identified in mouse and human two homeobox genes highly related to the Bar Drosophila genes, Barhl1 and Barhl2, While Barhl1 represents a novel gene, Barhl2 turned out to correspond to the mBH1 cDNA recently described in rat. We isolated and sequenced the full-length mouse Barhl1 and mapped both the human BARHL1 and BARHL2 genes to chromosomes 9q34 and 1p22, respectively, Detailed analysis of the murine Barhl1 expression pattern by in situ hybridization revealed that this transcript is exclusively expressed in restricted domains of the developing CNS, which suggests that this gene, similar to its Drosophila counterparts BarH1 and BarH2: may play a crucial role in cell fate determination of neural structures. In particular, Barhl1 showed specific domains of expression in the diencephalon and in the rhombencephalon where it was found to be expressed in migrating cells giving rise to the cerebellar external granular layer and to specific populations of dorsal sensory interneurons of the spinal cord. Thus, Barhl1 function may be required for the generation of these specific subtypes of neuronal progenitors. Furthermore, the mapping assignment and the expression pattern make BARHL1 an attractive positional candidate gene for a form of Joubert syndrome, a rare developmental anomaly of the cerebellum in humans.