Kleiter N, Artner I, Gmachl N, Ghaffari-Tabrizi N, Kratochwil K
Institute of Molecular Biology, Salzburg, Austria.
Cytogenet Genome Res. 2002;97(1-2):100-5. doi: 10.1159/000064062.
We have characterized a 185-kb contig surrounding a transgene on distal mouse chromosome 11, the insertion of which has caused a recessive phenotype with skeletal malformations. By cDNA selection and sequencing we have found six genes (Lasp1, Rpl23, Mllt6, Pip5k2b, Psmb3, Zfp144), one truncated gene (Mel13), and one pseudogene (Rps15-ps) within this region. The murine Mllt6 gene is new, it was identified by its high homology (90% identity) with the human homologue MLLT6. Psmb3 and Pip5k2b had not yet been assigned to mouse chromosomes. A comparison with the corresponding region on human chromosome 17q12 revealed several small-scale rearrangements during evolutionary divergence within this cluster of densely packed genes.
我们对小鼠11号染色体远端一个转基因周围的185kb重叠群进行了特征分析，该转基因的插入导致了一种具有骨骼畸形的隐性表型。通过cDNA筛选和测序，我们在该区域发现了六个基因（Lasp1、Rpl23、Mllt6、Pip5k2b、Psmb3、Zfp144）、一个截短基因（Mel13）和一个假基因（Rps15-ps）。小鼠Mllt6基因是新发现的，它通过与人类同源物MLLT6的高度同源性（90%同一性）得以鉴定。Psmb3和Pip5k2b尚未定位到小鼠染色体上。与人类17号染色体q12上的相应区域进行比较，发现在这一紧密排列的基因簇的进化分歧过程中发生了几次小规模重排。
