@article {879, title = {Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.}, journal = {Mov Disord}, volume = {36}, year = {2021}, month = {2021 02}, pages = {514-518}, abstract = {

BACKGROUND: Spinocerebellar ataxia types 1, 2, 3 and Huntington disease are neurodegenerative disorders caused by expanded CAG repeats.

METHODS: We performed an in-silico analysis of CAG repeats in ATXN1, ATXN2, ATXN3, and HTT using 30{\texttimes} whole-=genome sequencing data of 2504 samples from the 1000 Genomes Project.

RESULTS: Seven HTT-positive, 3 ATXN2-positive, 1 ATXN3-positive, and 6 possibly ATXN1-positive samples were identified. No correlation was found between the repeat sizes of the different genes. The distribution of CAG alleles varied by ethnicity.

CONCLUSION: Our results suggest that there may be asymptomatic small expanded repeats in almost 0.5\% of these populations. {\textcopyright} 2020 International Parkinson and Movement Disorder Society.

}, keywords = {Alleles, Ataxin-1, Ataxin-2, Ataxin-3, Humans, Huntingtin Protein, Huntington Disease, Repressor Proteins, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion, Trinucleotide Repeats}, issn = {1531-8257}, doi = {10.1002/mds.28341}, author = {Ak{\c c}imen, Fulya and Ross, Jay P and Liao, Calwing and Spiegelman, Dan and Dion, Patrick A and Rouleau, Guy A} } @article {169, title = {Somatic mosaicism: implications for disease and transmission genetics.}, journal = {Trends Genet}, volume = {31}, year = {2015}, month = {2015 Jul}, pages = {382-92}, abstract = {

Nearly all of the genetic material among cells within an organism is identical. However, single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants (CNVs), and other structural variants (SVs) continually accumulate as cells divide during development. This process results in an organism composed of countless cells, each with its own unique personal genome. Thus, every human is undoubtedly mosaic. Mosaic mutations can go unnoticed, underlie genetic disease or normal human variation, and may be transmitted to the next generation as constitutional variants. We review the influence of the developmental timing of mutations, the mechanisms by which they arise, methods for detecting mosaic variants, and the risk of passing these mutations on to the next generation.

}, keywords = {Animals, Genetic Diseases, Inborn, Genome, Human, Humans, Mosaicism, Mutagenesis, Insertional, Mutation, Polymorphism, Single Nucleotide, Risk, Trinucleotide Repeat Expansion}, issn = {0168-9525}, doi = {10.1016/j.tig.2015.03.013}, author = {Campbell, Ian M and Shaw, Chad A and Stankiewicz, Pawel and Lupski, James R} }