Walther C, Guenet J L, Simon D, Deutsch U, Jostes B, Goulding M D, Plachov D, Balling R, Gruss P
Department of Molecular Cell Biology, Max-Planck-Institute for Biophysical Chemistry, Göttingen, Federal Republic of Germany.
Genomics. 1991 Oct;11(2):424-34. doi: 10.1016/0888-7543(91)90151-4.
A murine multigene family has been identified that shares a conserved sequence motif, the paired box, with developmental control and tissue-specific genes of Drosophila. To date five murine paired box-containing genes (Pax genes) have been described and one, Pax-1, has been associated with the developmental mutant phenotype undulated. Here we describe the paired boxes of three novel Pax genes, Pax-4, Pax-5, and Pax-6. Comparison of the eight murine paired domains of the mouse, the five Drosophila paired domains, and the three human paired domains shows that they fall into six distinct classes: class I comprises Pox meso, Pax-1, and HuP48; class II paired, gooseberry-proximal, gooseberry-distal, Pax-3, Pax-7, HuP1, and HuP2; class III Pax-2, Pax-5, and Pax-8; class IV Pax-4; class V Pox neuro; and class VI Pax-6. Pax-1 and the human gene HuP48 have identical paired domains, as do Pax-3 and HuP2 as well as Pax-7 and HuP1, and are likely to represent homologous genes in mouse and man. Identical intron-exon structure and extensive sequence homology of their paired boxes suggest that several Pax genes represent paralogs. The chromosomal location of all novel Pax genes and of Pax-3 and Pax-7 has been determined and reveals that they are not clustered.
已鉴定出一个小鼠多基因家族，它与果蝇的发育控制基因和组织特异性基因共享一个保守的序列基序——配对盒。迄今为止，已描述了五个含小鼠配对盒的基因（Pax基因），其中一个，即Pax-1，与发育突变体表型“起伏”相关。在此，我们描述了三个新的Pax基因Pax-4、Pax-5和Pax-6的配对盒。对小鼠的八个配对结构域、果蝇的五个配对结构域和人类的三个配对结构域进行比较，结果表明它们可分为六个不同的类别：I类包括Pox meso、Pax-1和HuP48；II类包括配对、近侧醋栗、远侧醋栗、Pax-3、Pax-7、HuP1和HuP2；III类包括Pax-2、Pax-5和Pax-8；IV类包括Pax-4；V类包括Pox neuro；VI类包括Pax-6。Pax-1和人类基因HuP48具有相同的配对结构域，Pax-3和HuP2以及Pax-7和HuP1也是如此，它们可能代表小鼠和人类中的同源基因。其配对盒相同的内含子-外显子结构和广泛的序列同源性表明，几个Pax基因代表旁系同源基因。已确定了所有新的Pax基因以及Pax-3和Pax-7的染色体定位，结果显示它们并不成簇。
