Tarazami S T, Kringstein A M, Conte R A, Verma R S
Division of Genetics, Long Island College Hospital, N.Y., USA.
Genes Genet Syst. 1998 Apr;73(2):135-6. doi: 10.1266/ggs.73.135.
Structural variations between great ape and human chromosomes due to pericentric inversions and translocations have created at apparent controversy during the reconstruction of hominoid phylogeny. One such variation involves human chromosome 5, which is equivalent to chromosome 4 in chimpanzee and orangutan but equivalent to segments of chromosomes 4 and 19 in gorilla. Obviously, neither banding patterns nor centromeric indecies in these chromosomes match. The pathological condition of cri du chat syndrome is due to the cytogenetic deletion of band p15.2 of chromosome 5. Is this region involved during pericentric inversion of apes chromosome 4? We used a human cosmid probe for cri du chat syndrome as a phylogenetic marker in search of the aforementioned question. The genomic sequences for cri du chat syndrome region were conserved in chimpanzee (PTR4) and orangutan (PPY4) but displayed a positional divergence in gorilla on chromosome 19(GG019). In addition, we used a human cosmid DNA probe for DiGeorge syndrome which is located on chromosome 22 band q11.2 and was conserved within band 23q11.2 in apes. The loci specific human genomic probes may help to describe the inversions and translocations for other chromosomes.
由于着丝粒倒位和易位，大猩猩和人类染色体之间的结构变异在类人猿系统发育重建过程中引发了明显的争议。其中一种变异涉及人类5号染色体，它在黑猩猩和猩猩中相当于4号染色体，但在大猩猩中相当于4号和19号染色体的片段。显然，这些染色体的带型和着丝粒指数都不匹配。猫叫综合征的病理状况是由于5号染色体p15.2带的细胞遗传学缺失。这个区域在猿类4号染色体的着丝粒倒位过程中是否涉及？我们使用一种用于猫叫综合征的人类黏粒探针作为系统发育标记来寻找上述问题的答案。猫叫综合征区域的基因组序列在黑猩猩（PTR4）和猩猩（PPY4）中是保守的，但在大猩猩的19号染色体（GG019）上显示出位置差异。此外，我们使用一种用于迪乔治综合征的人类黏粒DNA探针，该探针位于22号染色体q11.2带，在猿类的23q11.2带内是保守的。位点特异性的人类基因组探针可能有助于描述其他染色体的倒位和易位情况。
