Deletion and insertion mutations in short tandem repeats in the coding regions of human genes
A Darvasi, B Kerem - European Journal of Human Genetics, 1995 - nature.com
In vitro studies in bacterial, yeast and eukaryotic systems have demonstrated the existence
of deletion and insertion 'hotspots' involving repetitive sequences. Slipped-strand mispairing …
of deletion and insertion 'hotspots' involving repetitive sequences. Slipped-strand mispairing …
Replication slippage versus point mutation rates in short tandem repeats of the human genome
D Pumpernik, B Oblak, B Borštnik - Molecular Genetics and Genomics, 2008 - Springer
Short tandem repeats (STRs) are subjected to two kinds of mutational modifications: point
mutations and replication slippages. The latter is found to be the more frequent cause of …
mutations and replication slippages. The latter is found to be the more frequent cause of …
Mutation of human short tandem repeats
JL Weber, C Wong - Human molecular genetics, 1993 - academic.oup.com
Abstract A total of 20,000 parent-offspring transfers of alleles were examined through the
genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms …
genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms …
Instability of simple sequence repeats in a mammalian cell line
RA Farber, TD Petes, M Dominska… - Human molecular …, 1994 - academic.oup.com
Short tandem repeat sequences in the mammalian genome are considered to be unstable,
since many of them are polymorphic ln length; however, the extent of this instability has …
since many of them are polymorphic ln length; however, the extent of this instability has …
A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci
MM Mahtani, HF Willard - Human molecular genetics, 1993 - academic.oup.com
We report a high rate of new mutation at a short tandem repeat sequence polymorphism
(STR, microsatellite) at locus DXS981 on the proximal long arm of the human X …
(STR, microsatellite) at locus DXS981 on the proximal long arm of the human X …
SSRD: simple sequence repeats database of the human genome
S Subramanian, VM Madgula, R George… - Comparative and …, 2003 - Wiley Online Library
Simple sequence repeats are predominantly found in most organisms. They play a major
role in studies of genetic diversity, and are useful as diagnostic markers for many diseases …
role in studies of genetic diversity, and are useful as diagnostic markers for many diseases …
Short tandem repeats and genetic variation
BE Madsen, P Villesen, C Wiuf - Genetic Variation: Methods and Protocols, 2010 - Springer
Single nucleotide polymorphisms (SNPs) are widely distributed in the human genome and
although most SNPs are the result of independent point-mutations, there are exceptions …
although most SNPs are the result of independent point-mutations, there are exceptions …
Mutational processes of simple-sequence repeat loci in human populations.
A Di Rienzo, AC Peterson, JC Garza… - Proceedings of the …, 1994 - National Acad Sciences
Mutational processes of simple sequence repeats (SSRs) in complex genomes are poorly
understood. We examined these processes by introducing a two-phase mutation model. In …
understood. We examined these processes by introducing a two-phase mutation model. In …
Insertions, substitutions, and the origin of microsatellites
This paper uses data from the Human Gene Mutation Database to contrast two hypotheses
for the origin of short DNA repeats: substitutions and insertions that duplicate adjacent …
for the origin of short DNA repeats: substitutions and insertions that duplicate adjacent …
Intrinsic polymorphism of variable number tandem repeat loci in the human genome
S Ali, RB Wallace - Nucleic acids research, 1988 - academic.oup.com
In the human genome, short tandem repetitive (STR) DNA sequences often show restriction
fragment length polymorphisms (RFLPs) due to variation in the number of copies of the …
fragment length polymorphisms (RFLPs) due to variation in the number of copies of the …