Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twins
- Resource Type
- Authors
- Marianne Nygaard; Kristina Magaard Koldby; Kaare Christensen; Lene Christiansen
- Source
- 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
- Subject
- 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
- Language
- English
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.