Bandyopadhyay R, McQuillan C, Page S L, Choo K H, Shaffer L G
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Chromosome Res. 2001;9(3):223-33. doi: 10.1023/a:1016648404388.
The centromeres and the short arms of the five pairs of acrocentric chromosomes in humans are composed of tandemly ordered repetitive DNA. Previous studies have suggested that the exchanges between acrocentric chromosomes have resulted in concerted evolution of different DNA sequences in their short arms. The acrocentric chromosomes are clinically relevant since they are involved in Robertsonian translocation formation and non-disjunction resulting in aneuploidy. Here we have identified seven new satellite III repetitive DNA subfamilies, determined their nucleotide sequences and established their chromosomal distributions on the short arms of the acrocentric chromosomes. Knowledge of these related sequences may help to elucidate the molecular basis of Robertsonian translocation formation.
人类五对近端着丝粒染色体的着丝粒和短臂由串联排列的重复DNA组成。先前的研究表明,近端着丝粒染色体之间的交换导致了其短臂中不同DNA序列的协同进化。近端着丝粒染色体在临床上具有相关性,因为它们参与罗伯逊易位的形成和导致非整倍体的不分离。在这里,我们鉴定了七个新的卫星III重复DNA亚家族,确定了它们的核苷酸序列,并确定了它们在近端着丝粒染色体短臂上的染色体分布。对这些相关序列的了解可能有助于阐明罗伯逊易位形成的分子基础。