Stubbs L, Carver E A, Shannon M E, Kim J, Geisler J, Generoso E E, Stanford B G, Dunn W C, Mohrenweiser H, Zimmermann W, Watt S M, Ashworth L K
Biology Division, Oak Ridge National Laboratory, Tennessee 37831-8077, USA.
Genomics. 1996 Aug 1;35(3):499-508. doi: 10.1006/geno.1996.0390.
One of the larger contiguous blocks of mouse-human genomic homology includes the proximal portion of mouse chromosome 7 and the long arm of human chromosome 19. Previous studies have demonstrated the close relationship between the two regions, but have also indicated significant rearrangements in the relative orders of homologous mouse and human genes. Here we present the genetic locations of the homologs of 42 human chromosome 19q markers in the mouse, with an emphasis on genes also included in the human chromosome 19 physical map. Our results demonstrate that despite an overall inversion of sequences relative to the centromere, apparent "transpositions" of three gene-rich segments, and a local inversion of markers mapping near the 19q telomere, gene content, order, and spacing are remarkably well conserved throughout the lengths of these related mouse and human regions. Although most human 19q markers have remained genetically linked in mouse, one small human segment forms a separate region of homology between human chromosome 19q and mouse chromosome 17. Three of the four rearrangements of mouse versus human 19q sequences involve segments that are located directly adjacent to each other in 19q13.3-q13.4, suggesting either the coincident occurrence of these events or their common association with unstable DNA sequences. These data permit an unusually in-depth examination of this large region of mouse-human genomic homology and provide an important new tool to aid in the mapping of genes and associated phenotypes in both species.
小鼠与人类基因组同源性较大的连续区域之一，包括小鼠7号染色体的近端部分和人类19号染色体的长臂。先前的研究已证明这两个区域之间存在密切关系，但也表明同源的小鼠和人类基因的相对顺序发生了显著重排。在此，我们展示了42个人类19号染色体q臂标记在小鼠中的同源基因位置，重点关注人类19号染色体物理图谱中也包含的基因。我们的结果表明，尽管相对于着丝粒序列整体发生了倒转，三个富含基因的片段出现了明显的“转位”，并且在19号染色体q臂端粒附近定位的标记发生了局部倒转，但在这些相关的小鼠和人类区域的全长范围内，基因含量、顺序和间距仍显著保守。虽然大多数人类19号染色体q臂标记在小鼠中仍保持遗传连锁，但一个小的人类片段在人类19号染色体q臂和小鼠17号染色体之间形成了一个单独的同源区域。小鼠与人类19号染色体q臂序列的四处重排中有三处涉及在19q13.3 - q13.4中彼此直接相邻的片段，这表明这些事件要么同时发生，要么与不稳定的DNA序列共同关联。这些数据使得能够对这个小鼠 - 人类基因组同源性的大区域进行异常深入的研究，并提供了一个重要的新工具，有助于在两个物种中绘制基因图谱和相关表型。
