ArticleAmerican journal of human genetics2003
Two modes of germline instability at human minisatellite MS1 (locus D1S7): complex rearrangements and paradoxical hyperdeletion.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line.Science (New York, N.Y.) · 2023Article
- Human-specific tandem repeat expansion and differential gene expression during primate evolution.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Chromosomal structural changes and microsatellite variations in newly synthesized hexaploid wheat mediated by unreduced gametes.Journal of genetics · 2016Article
- Recombination in the human Pseudoautosomal region PAR1.PLoS genetics · 2014Article
- Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.PLoS genetics · 2013Article
- The roles of WRN and BLM RecQ helicases in the Alternative Lengthening of Telomeres.Nucleic acids research · 2012Article
- Mutation at the human D1S80 minisatellite locus.TheScientificWorldJournal · 2012Article
- PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans.Nature genetics · 2010Article
- Profile of Alec J. Jeffreys.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Intracellular transcription of G-rich DNAs induces formation of G-loops, novel structures containing G4 DNA.Genes & development · 2004Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Minisatellite MS1 (locus D1S7) is one of the most unstable minisatellites identified in humans. It is unusual in having a short repeat unit of 9 bp and in showing somatic instability in colorectal carcinomas, suggesting that mitotic replication or repair errors may contribute to repeat-DNA mutation. We have therefore used single-molecule polymerase chain reaction to characterize mutation events in sperm and somatic DNA. As with other minisatellites, high levels of instability are seen only in the germline and generate two distinct classes of structural change. The first involves large and frequently complex rearrangements that most likely arise by recombinational processes, as is seen at other minisatellites. The second pathway generates primarily, if not exclusively, single-repeat changes restricted to sequence-homogeneous regions of alleles. Their frequency is dependent on the length of uninterrupted repeats, with evidence of a hyperinstability threshold similar in length to that observed at triplet-repeat loci showing expansions driven by dynamic mutation. In contrast to triplet loci, however, the single-repeat changes at MS1 exclusively involve repeat deletion, and can be so frequent--as many as 0.7-1.3 mutation events per sperm cell for the longest homogeneous arrays--that alleles harboring these long arrays must be extremely ephemeral in human populations. The apparently impossible existence of alleles with deletion-prone uninterrupted repeats therefore presents a paradox with no obvious explanation.
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