Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species

M Verbiest, M Maksimov, Y Jin… - Journal of …, 2023 - academic.oup.com
Short tandem repeats (STRs) are units of 1–6 bp that repeat in a tandem fashion in DNA.
Along with single nucleotide polymorphisms and large structural variations, they are among …

Characterization of genome-wide STR variation in 6487 human genomes

Y Shi, Y Niu, P Zhang, H Luo, S Liu, S Zhang… - Nature …, 2023 - nature.com
Short tandem repeats (STRs) are abundant and highly mutagenic in the human genome.
Many STR loci have been associated with a range of human genetic disorders. However …

Under the magnifying glass: the ups and downs of rDNA copy number

SM Kindelay, KA Maggert - Seminars in cell & developmental biology, 2023 - Elsevier
The ribosomal DNA (rDNA) in Drosophila is found as two additive clusters of individual 35 S
cistrons. The multiplicity of rDNA is essential to assure proper translational demands, but the …

A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder

S Khamse, S Alizadeh, SH Bernhart, H Afshar… - Scientific Reports, 2022 - nature.com
The human SBF1 (SET binding factor 1) gene, alternatively known as MTMR5, is
predominantly expressed in the brain, and its epigenetic dysregulation is linked to late-onset …

A GCC repeat in RAB26 undergoes natural selection in human and harbors divergent genotypes in late-onset Alzheimer's disease

S Alizadeh, S Khamse, N Tajeddin, HRK Khorshid… - Gene, 2024 - Elsevier
Although mainly located in genic regions and being mutation hotspots, intact blocks of CG-
rich trinucleotide short tandem repeats (STRs) are largely overlooked with respect to their …

Trade-offs, trade-ups, and high mutational parallelism underlie microbial adaptation during extreme cycles of feast and famine

MG Behringer, WC Ho, SF Miller, SB Worthan, Z Cen… - Current Biology, 2024 - cell.com
Microbes are evolutionarily robust organisms capable of rapid adaptation to complex stress,
which enables them to colonize harsh environments. In nature, microbes are regularly …

Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans

AN Hall, TN Turner, C Queitsch - Scientific reports, 2021 - nature.com
The ribosomal RNA genes (rDNA) are tandemly arrayed in most eukaryotes and exhibit vast
copy number variation. There is growing interest in integrating this variation into genotype …

Genomic and phenotypic evolution of Escherichia coli in a novel citrate-only resource environment

ZD Blount, R Maddamsetti, NA Grant, ST Ahmed… - Elife, 2020 - elifesciences.org
Evolutionary innovations allow populations to colonize new ecological niches. We
previously reported that aerobic growth on citrate (Cit+) evolved in an Escherichia coli …

Natural selection at the NHLH2 core promoter exceptionally long CA-repeat in human and disease-only genotypes in late-onset neurocognitive disorder

H Afshar, F Adelirad, A Kowsari, N Kalhor, A Delbari… - Gerontology, 2020 - karger.com
Background: Approximately 2% of the human core promoter short tandem repeats (STRs)
reach lengths of≥ 6 repeats, which may in part be a result of adaptive evolutionary …

Novel islands of GGC and GCC repeats coincide with human evolution

N Tajeddin, M Arabfard, S Alizadeh, M Salesi… - Gene, 2024 - Elsevier
Background Because of high mutation rate, overrepresentation in genic regions, and link
with various neurological, neurodegenerative, and movement disorders, GGC and GCC …