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人类普拉德-威利综合征/安吉尔曼综合征基因座的基因组序列在大猩猩中明显保守。

The genomic sequence for Prader-Willi/Angelman syndromes' loci of human is apparently conserved in the great apes.

作者信息

Luke S, Verma R S

出版信息

J Mol Evol. 1995 Aug;41(2):250-2. doi: 10.1007/BF00170680.

Abstract

Chromosomal changes through pericentric inversions play an important role in the origin of species. Certain pericentric inversions are too minute to be detected cytogenetically, thus hindering the complete reconstruction of hominoid phylogeny. The advent of the fluorescence in situ hybridization (FISH) technique has facilitated the identification of many chromosomal segments, even at the single gene level. Therefore the cosmid probe for Prader-Willi (PWS)/Angelman syndrome to the loci on human chromosome 15 [q11-13] is being used as a marker to highlight the complementary sequence in higher primates. We hybridized metaphase chromosomes of chimpanzee (PTR), gorilla (GGO), and orangutan (PPY) with this probe (Oncor) to characterize the chromosomal segments because the nature of these pericentric inversions remains relatively unknown. Our observations suggest that a pericentric inversion has occurred in chimpanzee chromosome (PTR 16) which corresponds to human chromosome 15 at PTR 16 band p11-12, while in gorilla (GGO 15) and orangutan (PPY 16) the bands q11-13 complemented to human chromosome 15 band q11-13. This approach has proven to be a better avenue to characterize the pericentric inversions which have apparently occurred during human evolution. "Genetic" divergence in the speciation process which occurs through "chromosomal" rearrangement needs to be reevaluated and further explored using newer techniques.

摘要

通过臂间倒位发生的染色体变化在物种起源中起着重要作用。某些臂间倒位非常微小,无法通过细胞遗传学方法检测到,这就阻碍了类人猿系统发育的完整重建。荧光原位杂交(FISH)技术的出现促进了许多染色体片段的识别,甚至在单基因水平也是如此。因此,用于普拉德-威利综合征(PWS)/安吉尔曼综合征的黏粒探针被用作标记,以突出高等灵长类动物中的互补序列,该探针针对人类15号染色体[q11 - 13]上的位点。我们用该探针(Oncor)与黑猩猩(PTR)、大猩猩(GGO)和猩猩(PPY)的中期染色体进行杂交,以表征染色体片段,因为这些臂间倒位的性质仍然相对未知。我们的观察结果表明,在黑猩猩染色体(PTR 16)中发生了一次臂间倒位,在PTR 16的p11 - 12带处与人类15号染色体相对应,而在大猩猩(GGO 15)和猩猩(PPY 16)中,q11 - 13带与人类15号染色体的q11 - 13带互补。这种方法已被证明是表征在人类进化过程中显然发生的臂间倒位的更好途径。通过“染色体”重排发生的物种形成过程中的“遗传”差异需要使用更新的技术重新评估并进一步探索。

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