Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins
| Autor: | Marianne Nygaard, Kristina Magaard Koldby, Kaare Christensen, Lene Christiansen |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Aging DNA Copy Number Variations Denmark Short Report Monozygotic twin Twins Monozygotic/genetics Human genetic variation Biology Clonal Evolution 03 medical and health sciences Genetic linkage Chromosomes Human Pair 14/genetics Genetics medicine Aging/genetics Humans Copy-number variation Genetics (clinical) Aged Aged 80 and over Chromosomes Human Pair 14 Mosaicism Twins Monozygotic medicine.disease Chromosomes Human Pair 4/genetics Uniparental disomy Human genetics 030104 developmental biology Medical genetics Human genome Female Chromosomes Human Pair 4 |
| Zdroj: | Magaard Koldby, K, Nygaard, M, Christensen, K & Christiansen, L 2016, ' Somatically acquired structural genetic differences : a longitudinal study of elderly Danish twins ', European Journal of Human Genetics, vol. 24, no. 10, pp. 1506–1510 . https://doi.org/10.1038/ejhg.2016.34 |
| DOI: | 10.1038/ejhg.2016.34 |
| Popis: | Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested that they may accumulate in elderly individuals. To further explore the presence and the age-related acquisition of somatic structural variants in the human genome, we investigated CNVs acquired over a period of 10 years in 86 elderly Danish twins as well as CNV discordances between co-twins of 18 monozygotic twin pairs. Furthermore, the presence of mosaic structural variants was explored. We identified four mosaic acquired uniparental disomy events on chromosome 4q and 14q in the follow-up samples from four individuals, and our study thereby supports the increasing prevalence of somatic mosaic variants with age. |
| Databáze: | OpenAIRE |
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