Results 1 to 10 of about 3,537,585 (186)

Native functions of short tandem repeats. [PDF]

Elife, 2023
Over a third of the human genome is comprised of repetitive sequences, including more than a million short tandem repeats (STRs). While studies of the pathologic consequences of repeat expansions that cause syndromic human diseases are extensive, the ...
Wright SE, Todd PK.
europepmc   +4 more sources

Evolutionary Study of Protein Short Tandem Repeats in Protein Families. [PDF]

Biomolecules, 2023
Tandem repeats in proteins are patterns of residues repeated directly adjacent to each other. The evolution of these repeats can be assessed by using groups of homologous sequences, which can help pointing to events of unit duplication or deletion.
Mier P, Andrade-Navarro MA.
europepmc   +3 more sources

GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's disease. [PDF]

Nat Commun
GWAS typically focus on SNPs, often excluding complex genetic variants, such as short tandem repeats. Here, we report the results of GWAS analyses systematically assessing the role of short tandem repeats, both imputed and directly genotyped by whole ...
Gmelin D, Ohlei O, Aslam MM, Junge MP, Parkkinen L, Mullin K, Prokopenko D, Lill CM, Tanzi RE, Dobricic V, Bertram L.   +10 more
europepmc   +3 more sources

Modification of Huntington's disease by short tandem repeats. [PDF]

Brain Commun
Abstract Expansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington’s disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat.
Hong EP, Ramos EM, Aziz NA, Massey TH, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Lomeikaite V, Monckton DG, Long JD, Lucente D, Wheeler VC, Gillis T, MacDonald ME, Sequeiros J, Gusella JF, Lee JM.   +20 more
europepmc   +5 more sources

Genome-wide selection inference at short tandem repeats. [PDF]

PLoS Genet
Short tandem repeats (STRs) comprising repeated sequences of 1-6 bp are one of the largest sources of genetic variation in humans. STRs are known to contribute to a variety of disorders, including Mendelian diseases, complex traits, and cancer.
Huang B, Durvasula A, Mousavi N, Ziaei-Jam H, Maksimov M, Lohmueller KE, Gymrek M.   +6 more
europepmc   +2 more sources

A Brief Review of Short Tandem Repeat Mutation

Genomics, Proteomics and Bioinformatics, 2007
Abstract Short tandem repeats (STRs) are short tandemly repeated DNA sequences that involve a repetitive unit of 1–6 bp. Because of their polymorphisms and high mutation rates, STRs are widely used in biological research. Strand-slippage replication is the predominant mutation mechanism of STRs, and the stepwise mutation model is ...
Hao Fan, Jia-You Chu
exaly   +4 more sources

Short tandem repeats delineate gene bodies across eukaryotes. [PDF]

Nat Commun
Short tandem repeats (STRs) have emerged as important and hypermutable sites where genetic variation correlates with gene expression in plant and animal systems.
Reinar WB, Krabberød AK, Lalun VO, Butenko MA, Jakobsen KS.   +4 more
europepmc   +2 more sources

The repertoire of short tandem repeats across the tree of life. [PDF]

Genome Biol
Background Short tandem repeats (STRs) are widespread, dynamic repetitive elements with a number of biological functions and relevance to human diseases, genome plasticity and adaptation. However, their prevalence across taxa remains poorly characterized.
Chantzi N, Georgakopoulos-Soares I.
europepmc   +2 more sources

Evaluation of genetic instability of short tandem repeats in hepatocellular carcinoma. [PDF]

Sci Rep
Hepatocellular carcinoma (HCC) ranked as the sixth most common malignancy and the third leading cause of cancer-related mortality with approximately 830, 000 deaths worldwide annually.
Song Y, Xu M, Li Y, Zhang X, Xu W.
europepmc   +2 more sources

DNA polymerase characteristics influence noise levels in sequencing of short tandem repeats. [PDF]

BMC Genomics
Background Polymerase chain reaction (PCR) applications including sequencing rely on thermostable DNA polymerases and their ability to generate accurate amplicons. Polymerization errors may hinder the detection of low-level DNA variants such as mutations
Lindh T, Sidstedt M, Kiesler KM, Vallone PM, Hedman J.   +4 more
europepmc   +2 more sources