Somatic deletions

1 paper studies it7 more mention it1 finding

Humans1

Upstream

1

DNA repair deficiency

upin humans1

1 study

DNA repair deficiency increases somatic deletions in humans.
“Our analysis of 50 single neurons from DNA repair-deficient diseases with progressive neurodegeneration (Cockayne syndrome, Xeroderma pigmentosum, and Ataxia telangiectasia) reveals elevated somatic deletions compared to age-matched controls.”
Humansbrain
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders
Nature communicationsOct 7, 2022

Latest

1 paper in 12 months

AAIC 2025 AbstractDec 23

Neurons accumulate disease‐specific somatic deletions across tau pathological states in Alzheimer’s disease

Case-control study in peopleMechanisms

bioRxivSep 3

Mitochondrial Deletions and Healthspan: Lessons from the Common Repeat

Preprint: reviewMitochondrion

BMC BiologyMay 9

Secondary structure of the human mitochondrial genome affects formation of deletions

Computational studyMitochondrion

Nature CommunicationsOct 8

Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders

Cohort study of 18 peopleDNA repair

AgingOct 24

Mesenchymal stem cell senescence alleviates their intrinsic and seno-suppressive paracrine properties contributing to osteoarthritis development

Experiments in animalsMechanisms

bioRxivApr 15

Risk of mitochondrial deletions is affected by the global secondary structure of the human mitochondrial genome

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Acta Neuropathologica CommunicationsFeb 6

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Study in peopleMechanisms

OncotargetMar 19

BAF180 regulates cellular senescence and hematopoietic stem cell homeostasis through p21

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