Kingsley K, Wirth J, van der Maarel S, Freier S, Ropers H H, Haaf T
Max-Planck-Institute of Molecular Genetics, Berlin, Germany.
Cytogenet Cell Genet. 1997;78(1):12-9. doi: 10.1159/000134616.
We have generated a human subtelomere probe panel, utilizing well characterized CEPH YACs, for the investigation of human chromosome pathology and evolution through fluorescent in situ hybridization (FISH). Region-specific FISH probes will be extremely valuable for detecting cytogenetically cryptic telomere abnormalities. Here, we present the first comparative mapping study (with 29 subtelomere probes and 6 chromosome paints) to the Old World monkey Presbytis cristata, followed by hybridizations to the great apes, gorilla and orangutan, when rearrangements were detected. We observed that the position of telomere-associated genomic sequences has been only moderately conserved during primate evolution. YAC 364f9, specific for the subtelomeric long arm of human chromosome 3, contains an evolutionary inversion breakpoint that was involved in independent chromosome rearrangements in P. cristata and gorilla.
我们利用特征明确的CEPH酵母人工染色体（YAC）构建了一个人类亚端粒探针组，用于通过荧光原位杂交（FISH）研究人类染色体病理学和进化。区域特异性FISH探针对于检测细胞遗传学上隐匿的端粒异常将极为有用。在此，我们首次对东半球猴白臀叶猴进行了比较定位研究（使用29个亚端粒探针和6种染色体涂染探针），当检测到重排时，随后对大猩猩和猩猩这两种大型猿类进行了杂交。我们观察到，在灵长类动物进化过程中，端粒相关基因组序列的位置仅得到适度保守。人类3号染色体亚端粒长臂特异性的YAC 364f9包含一个进化倒位断点，该断点参与了白臀叶猴和大猩猩独立的染色体重排。
