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 …

Enhancing genomic mutation data storage optimization based on the compression of asymmetry of sparsity

Y Ding, Y Liao, J He, J Ma, X Wei, X Liu, G Zhang… - Frontiers in …, 2023 - frontiersin.org
Background: With the rapid development of high-throughput sequencing technology and the
explosive growth of genomic data, storing, transmitting and processing massive amounts of …

Trade-offs, trade-ups, and high mutational parallelism underlie microbial adaptation to extreme feast/famine

MG Behringer, WC Ho, SF Miller, SB Worthan, Z Cen… - bioRxiv, 2023 - biorxiv.org
Microbes are robust organisms capable of rapidly adapting to complex stress, enabling the
colonization of harsh environments. In nature, microbes are regularly challenged by …

Unprecedented islands of GGC and GCC repeats coincide with human evolution.

N Tajeddin, M Arabfard, S Alizadeh, M Salesi… - 2023 - researchsquare.com
Because of high mutation rate, overrepresentation in genic regions, and link with various
neurological, neurodegenerative, and movement disorders, GGC and GCC short tandem …

A primate-specific (CCG) repeat in DISP2 is subject to natural selection in human and harbors divergent genotypes in late-onset neurocognitive disorder.

S Khamse, S Alizadeh, HRK Khorshid, A Delbari… - 2023 - researchsquare.com
Abstract (CCG)-repeats are predominantly enriched in genic regions, mutation hotspots for
C to T truncating substitutions, and involved in various neurological and …