Nishijima Ichiko, Mills Alea, Qi Yi, Mills Michael, Bradley Allan
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Genesis. 2003 Jul;36(3):142-8. doi: 10.1002/gene.10207.
To facilitate genetic screens to identify and maintain recessive mutations that map to the short arm of human chromosome 1, we have utilized chromosome engineering to generate two mouse strains that carry large inversions on the distal region of mouse chromosome 4. The inversion intervals are 16 and 22 cM in size together they cover approximately half of chromosome 4. Since recombination between the wild-type and inversion chromosomes does not occur within these inversion intervals, mutant alleles of genes mapping to this region can be identified and maintained. Therefore, these inversion chromosomes work as balancer chromosomes. These inversions have the additional advantage that they are tagged with genes encoding the visible coat color markers tyrosinase and agouti, and therefore the dosage of the inversion chromosome (+/+, Inv/+, Inv/Inv) can be visually recognized. These inversion strains will be extremely useful for mutagenesis screens that focus on functional annotation of human chromosome 1p.
为便于进行遗传筛选以鉴定和维持定位于人类1号染色体短臂上的隐性突变，我们利用染色体工程技术构建了两个小鼠品系，它们在小鼠4号染色体的远端区域携带大的倒位。倒位区间大小分别为16和22厘摩，它们共同覆盖了约一半的4号染色体。由于野生型和倒位染色体之间在这些倒位区间内不会发生重组，因此定位于该区域的基因的突变等位基因可以被鉴定和维持。所以，这些倒位染色体起到了平衡染色体的作用。这些倒位还有一个额外的优势，即它们带有编码可见毛色标记酪氨酸酶和刺鼠信号蛋白的基因，因此可以通过视觉识别倒位染色体的剂量（+/+、Inv/+、Inv/Inv）。这些倒位品系对于专注于人类1号染色体短臂功能注释的诱变筛选将极为有用。
