The biological effects of simple tandem repeats: lessons from the repeat expansion diseases

K Usdin - Genome research, 2008 - genome.cshlp.org
Tandem repeats are common features of both prokaryote and eukaryote genomes, where
they can be found not only in intergenic regions but also in both the noncoding and coding …

Tandem repeats mediating genetic plasticity in health and disease

AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Trinucleotide repeats: mechanisms and pathophysiology

CJ Cummings, HY Zoghbi - Annual review of genomics and …, 2000 - annualreviews.org
Within the closing decade of the twentieth century, 14 neurological disorders were shown to
result from the expansion of unstable trinucleotide repeats, establishing this once unique …

Fourteen and counting: unraveling trinucleotide repeat diseases

CJ Cummings, HY Zoghbi - Human molecular genetics, 2000 - academic.oup.com
The pathological expansion of unstable trinucleotide repeats currently is known to cause 14
neurological diseases. Over the past several years, researchers have concentrated on the …

Native functions of short tandem repeats

SE Wright, PK Todd - Elife, 2023 - elifesciences.org
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 …

DNA repeat expansions and human disease

K Usdin*, E Grabczyk - Cellular and Molecular Life Sciences CMLS, 2000 - Springer
The repeat expansion diseases are genetic disorders caused by intergenerational
expansions of a specific tandem DNA repeat. These disorders range from mildly to severely …

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Biological implications of the DNA structures associated with disease-causing triplet repeats

RR Sinden - The American Journal of Human Genetics, 1999 - cell.com
Within the last 6–8 years, the remarkable revelation that many neurodegenerative diseases
are caused by the expansion of triplet repeats has prompted a great deal of research …

[引用][C] Simple repeat DNA is not replicated simply

RI Richards, GR Sutherland - Nature Genetics, 1994 - nature.com
Repeat sequences in complex genomes have had a checkered history. Before the
introduction of recombinant DNA technology they were one of the few accessible and …