Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes

G Ananda, SE Hile, A Breski, Y Wang, Y Kelkar… - PLoS …, 2014 - journals.plos.org
Interruptions of microsatellite sequences impact genome evolution and can alter disease
manifestation. However, human polymorphism levels at interrupted microsatellites (iMSs) …

A genomic portrait of human microsatellite variation

BA Payseur, P Jing, RJ Haasl - Molecular biology and evolution, 2011 - academic.oup.com
Rapid advances in DNA sequencing and genotyping technologies are beginning to reveal
the scope and pattern of human genomic variation. Although single nucleotide …

The genome-wide determinants of human and chimpanzee microsatellite evolution

YD Kelkar, S Tyekucheva, F Chiaromonte… - Genome …, 2008 - genome.cshlp.org
Mutation rates of microsatellites vary greatly among loci. The causes of this heterogeneity
remain largely enigmatic yet are crucial for understanding numerous human neurological …

Abundance of ethnically biased microsatellites in human gene regions

N Kinney, L Kang, L Eckstrand, A Pulenthiran… - PLoS …, 2019 - journals.plos.org
Microsatellites–a type of short tandem repeat (STR)–have been used for decades as
putatively neutral markers to study the genetic structure of diverse human populations …

A matter of life or death: how microsatellites emerge in and vanish from the human genome

YD Kelkar, KA Eckert, F Chiaromonte… - Genome …, 2011 - genome.cshlp.org
Microsatellites—tandem repeats of short DNA motifs—are abundant in the human genome
and have high mutation rates. While microsatellite instability is implicated in numerous …

Genetic evidence that both dNTP-stabilized and strand slippage mechanisms may dictate DNA polymerase errors within mononucleotide microsatellites

BA Baptiste, KD Jacob, KA Eckert - DNA repair, 2015 - Elsevier
Mononucleotide microsatellites are tandem repeats of a single base pair, abundant within
coding exons and frequent sites of mutation in the human genome. Because the repeated …

Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues

G Cooper, DC Rubinsztein… - Human Molecular …, 1998 - academic.oup.com
A large majority of human microsatellite markers are longer than their homologues in
chimpanzees, suggesting that more expansion mutations have occurred in the lineage …

DNA polymerase kappa microsatellite synthesis: Two distinct mechanisms of slippage‐mediated errors

BA Baptiste, KA Eckert - Environmental and molecular …, 2012 - Wiley Online Library
Microsatellite tandem repeats are frequent sites of strand slippage mutagenesis in the
human genome. Microsatellite mutations often occur as insertion/deletion of a repeat motif …

Mature microsatellites: mechanisms underlying dinucleotide microsatellite mutational biases in human cells

BA Baptiste, G Ananda, N Strubczewski… - G3: Genes …, 2013 - academic.oup.com
Dinucleotide microsatellites are dynamic DNA sequences that affect genome stability. Here,
we focused on mature microsatellites, defined as pure repeats of lengths above the …

CAGm: a repository of germline microsatellite variations in the 1000 genomes project

N Kinney, K Titus-Glover, JD Wren… - Nucleic acids …, 2019 - academic.oup.com
The human genome harbors an abundance of repetitive DNA; however, its function
continues to be debated. Microsatellites—a class of short tandem repeat—are established …