Search Results - "JEFFREYS, Alec J"
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Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations
Published in Proceedings of the National Academy of Sciences - PNAS (26-07-2011)“…PRDM9 is a major specifier of human meiotic recombination hotspots, probably via binding of its zinc-finger repeat array to a DNA sequence motif associated…”
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Where the crossovers are: recombination distributions in mammals
Published in Nature reviews. Genetics (01-06-2004)“…Until recently, recombination studies in humans and mice had identified only a few anecdotal examples of crossover hot spots. Recently, the pace of discovery…”
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3
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
Published in Nature genetics (01-10-2001)“…There is considerable interest in understanding patterns of linkage disequilibrium (LD) in the human genome, to aid investigations of human evolution and…”
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4
Recombination regulator PRDM9 influences the instability of its own coding sequence in humans
Published in Proceedings of the National Academy of Sciences - PNAS (08-01-2013)“…PRDM9 plays a key role in specifying meiotic recombination hotspot locations in humans and mice via recognition of hotspot sequence motifs by a variable…”
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5
Transmission distortion affecting human noncrossover but not crossover recombination: a hidden source of meiotic drive
Published in PLoS genetics (01-02-2014)“…Meiotic recombination ensures the correct segregation of homologous chromosomes during gamete formation and contributes to DNA diversity through both…”
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Intense and highly localized gene conversion activity in human meiotic crossover hot spots
Published in Nature genetics (01-02-2004)“…Meiotic gene conversion has an important role in allele diversification and in the homogenization of gene and other repeat DNA sequence families, sometimes…”
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Human recombination hot spots hidden in regions of strong marker association
Published in Nature genetics (01-06-2005)“…The fine-scale distribution of meiotic recombination events in the human genome can be inferred from patterns of haplotype diversity in human populations but…”
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8
Processes of de novo duplication of human α-globin genes
Published in Proceedings of the National Academy of Sciences - PNAS (26-06-2007)“…Ectopic recombination between repeated but nonallelic DNA sequences plays a major role in genome evolution, creating gene families and generating copy number…”
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Processes of Copy-Number Change in Human DNA: The Dynamics of α-Globin Gene Deletion
Published in Proceedings of the National Academy of Sciences - PNAS (13-06-2006)“…Ectopic recombination between locally repeated DNA sequences is of fundamental importance in the evolution of gene families, generating copy-number variation…”
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Dynamics and processes of copy number instability in human γ-globin genes
Published in Proceedings of the National Academy of Sciences - PNAS (04-05-2010)“…Copy number variation in the human genome is prevalent but relatively little is known about the dynamics of DNA rearrangement. We therefore used the duplicated…”
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Species-wide distribution of highly polymorphic minisatellite markers suggests past and present genetic exchanges among house mouse subspecies
Published in Genome Biology (14-05-2007)“…Four hypervariable minisatellite loci were scored on a panel of 116 individuals of various geographical origins representing a large part of the diversity…”
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PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans
Published in Nature genetics (01-10-2010)“…PRDM9 has recently been identified as a likely trans regulator of meiotic recombination hot spots in humans and mice. PRDM9 contains a zinc finger array that,…”
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13
Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX
Published in Nature genetics (01-07-2002)“…Crossover between the human sex chromosomes during male meiosis is restricted to the terminal pseudoautosomal pairing regions. An obligatory exchange occurs in…”
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Meiotic recombination hot spots and human DNA diversity
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29-01-2004)“…Meiotic recombination plays a key role in the maintenance of sequence diversity in the human genome. However, little is known about the fine–scale distribution…”
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The rise and fall of a human recombination hot spot
Published in Nature genetics (01-05-2009)“…Human meiotic crossovers mainly cluster into narrow hot spots that profoundly influence patterns of haplotype diversity and that may also affect genome…”
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Global haplotype diversity in the human insulin gene region
Published in Genome research (01-09-2003)“…The insulin minisatellite (INS VNTR) has been intensively analyzed due to its associations with diseases including diabetes. We have previously used patterns…”
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Human telomeres that carry an integrated copy of human herpesvirus 6 are often short and unstable, facilitating release of the viral genome from the chromosome
Published in Nucleic acids research (01-01-2014)“…Linear chromosomes are stabilized by telomeres, but the presence of short dysfunctional telomeres triggers cellular senescence in human somatic tissues, thus…”
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Factors influencing recombination frequency and distribution in a human meiotic crossover hotspot
Published in Human molecular genetics (01-08-2005)“…Little is known about the factors that influence the frequency and distribution of meiotic recombination events within human crossover hotspots. We now…”
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Human tandem repeat sequences in forensic DNA typing
Published in Legal medicine (Tokyo, Japan) (01-07-2005)“…It has been 20 years since the first development of DNA fingerprinting and the start of forensic DNA typing. Ever since, human tandem repeat DNA sequences have…”
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Polymorphism in the activity of human crossover hotspots independent of local DNA sequence variation
Published in Human molecular genetics (01-05-2006)“…Meiotic crossovers in the human genome cluster into highly localized hotspots identifiable indirectly from patterns of DNA diversity and directly by…”
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