Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy

Mechanisms of Ageing and Development
N T LeachColleen Jackson-Cook

Abstract

Both telomere shortening and increases in aneuploidy frequencies have been associated with aging. To test if these chromosomal attributes are correlated, chromosome-specific telomere lengths and aneuploidy frequencies were estimated and compared. Aneuploidy frequencies were determined for 10 autosomes (1, 3, 5, 8, 9, 10, 13, 16, 17, 21) and the X chromosome in lymphocytes, and for chromosomes 17 and X in buccal mucosa cells. Overall, chromosomal loss was seen more often than gain in lymphocytes, with the highest loss rates being observed for chromosomes X (3.03%), 17 (2.00%), and the autosomes having large blocks of heterochromatin (1 [1.93%]; 16 [1.53%]; and 9 [1.05%]). The frequencies of loss were significantly lower in the buccal mucosa cells compared to lymphocytes for chromosomes 17 (P = 0.006) and X (P = 0.003). However, the chromosome 17 trisomy frequencies did not vary between tissues. Using a semi-quantitative FISH assay to estimate chromosome-specific telomere length, a significant negative correlation (r = -0.379; P = 0.007) was seen for chromosomal aneuploidy and telomere length, with chromosomes having higher loss rates being noted to have shorter telomeres. Collectively, these studies show that acquired, spontaneo...Continue Reading

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