ArticleAmerican journal of human genetics2000
High levels of sequence polymorphism and linkage disequilibrium at the telomere of 12q: implications for telomere biology and human evolution.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- Gender and telomere length: systematic review and meta-analysis.Experimental gerontology · 2014Pooled it
- Single-molecule variation in telomeric sequence and structure across humans.bioRxiv : the preprint server for biology · 2026Article
- Atlas of telomeric repeat diversity in Arabidopsis thaliana.Genome biology · 2024Article
- The Structure of Simple Satellite Variation in the Human Genome and Its Correlation With Centromere Ancestry.Genome biology and evolution · 2024Article
- TERRA ONTseq: a long-read-based sequencing pipeline to study the human telomeric transcriptome.RNA (New York, N.Y.) · 2024Article
- Characterization of telomere variant repeats using long reads enables allele-specific telomere length estimation.BMC bioinformatics · 2024Article
- ATRX modulates the escape from a telomere crisis.PLoS genetics · 2022Article
- Dynamic interaction of BRCA2 with telomeric G-quadruplexes underlies telomere replication homeostasis.Nature communications · 2022Article
- The absence of (TCAGGG)Scientific reports · 2020Article
- Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres inLife (Basel, Switzerland) · 2020Article
- Telomere sequence content can be used to determine ALT activity in tumours.Nucleic acids research · 2018Article
- Molecular mechanisms of activity and derepression of alternative lengthening of telomeres.Nature structural & molecular biology · 2015Review
- Telomere extension by telomerase and ALT generates variant repeats by mechanistically distinct processes.Nucleic acids research · 2014Article
- 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.Nucleic acids research · 2014Article
- Variant repeats are interspersed throughout the telomeres and recruit nuclear receptors in ALT cells.The Journal of cell biology · 2012Article
- The roles of WRN and BLM RecQ helicases in the Alternative Lengthening of Telomeres.Nucleic acids research · 2012Article
- Telomere-targeted retrotransposons in the rice blast fungus Magnaporthe oryzae: agents of telomere instability.Genetics · 2012Article
- TCAGG, an alternative telomeric sequence in insects.Chromosoma · 2011Article
- Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.Nucleic acids research · 2010Article
- Human telomeres that contain (CTAGGG)n repeats show replication dependent instability in somatic cells and the male germline.Nucleic acids research · 2009Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human Xp/Yp telomere-junction region exhibits high levels of sequence polymorphism and linkage disequilibrium. To determine whether this is a general feature of human telomeres, we have undertaken sequence analysis at the 12q telomere and have extended the analysis at Xp/Yp. A total of 22 single-nucleotide polymorphisms (SNPs) and one 30-bp duplication were detected in the 1,870 bp adjacent to the 12q telomere. Twenty polymorphic positions were in almost complete linkage disequilibrium, creating three common diverged haplotypes accounting for 80% of 12q telomeres in the white population. A further 6% of 12q telomeres contained a 1,439-bp deletion in the DNA flanking the telomere. The remaining 13% of 12q telomeres did not amplify with the primers used (nulls). The distribution of telomere (TTAGGG) and variant repeats within 12q telomeres was hypervariable, but alleles with similar distribution patterns were associated with the same haplotype in the telomere-adjacent DNA. These data suggest that 12q telomeres, like Xp/Yp telomeres, exhibit low levels of homologous recombination and evolve along haploid lineages. In contrast, high levels of homologous recombination occur in the adjacent proterminal regions of human chromosomes. This suggests that there is a localized telomere-mediated suppression of recombination. In addition, the genetic characteristics of these regions may provide a source of deep lineages for the study of early human evolution, unaffected by both natural selection and recombination. To explain the presence of a few diverged haplotypes adjacent to the Xp/Yp and 12q telomeres, we propose a model that involves the hybridization of two archaic hominoid lineages ultimately giving rise to modern Homo sapiens.
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