ArticleAmerican journal of human genetics2002
The evolutionary origin of human subtelomeric homologies--or where the ends begin.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 51 citations in OpenAlex.
- Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation.Cell genomics · 2026Article
- PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.Genome biology · 2023Article
- Variants in RABL2A causing male infertility and ciliopathy.Human molecular genetics · 2020Article
- Subtelomeric Transcription and its Regulation.Journal of molecular biology · 2020Review
- Deletion in theJournal of the American Society of Nephrology : JASN · 2020Article
- Dissecting the Vesicular Trafficking Function of IFT Subunits.Frontiers in cell and developmental biology · 2019Review
- The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.Developmental cell · 2017Article
- A paneukaryotic genomic analysis of the small GTPase RABL2 underscores the significance of recurrent gene loss in eukaryote evolution.Biology direct · 2016Article
- Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event.Genome research · 2009Article
- Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.Genomics · 2008Article
- Structural divergence between the human and chimpanzee genomes.Human genetics · 2007Review
- Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes.Human genetics · 2006Article
- Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication.Nature · 2005Article
- Human subtelomere structure and variation.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2005Review
- The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres.The Journal of cell biology · 2004Article
- Mapping and initial analysis of human subtelomeric sequence assemblies.Genome research · 2004Article
- Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p.Genome research · 2003Article
- Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.Genome research · 2002Article
- Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes.Genome research · 2002Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
The subtelomeric regions of human chromosomes are comprised of sequence homologies shared between distinct subsets of chromosomes. In the course of developing a set of unique human telomere clones, we identified many clones containing such shared homologies, characterized by the presence of cross-hybridization signals on one or more telomeres in a fluorescence in situ hybridization (FISH) assay. We studied the evolutionary origin of seven subtelomeric clones by performing comparative FISH analysis on a primate panel that included great apes and Old World monkeys. All clones tested showed a single hybridization site in Old World monkeys that corresponded to one of the orthologous human sites, thus indicating the ancestral origin. The timing of the duplication events varied among the subtelomeric regions, from approximately 5 to approximately 25 million years ago. To examine the origin of and mechanism for one of these subtelomeric duplications, we compared the sequence derived from human 2q13--an ancestral fusion site of two great ape telomeric regions--with its paralogous subtelomeric sequences at 9p and 22q. These paralogous regions share large continuous homologies and contain three genes: RABL2B, forkhead box D4, and COBW-like. Our results provide further evidence for subtelomeric-mediated genomic duplication and demonstrate that these segmental duplications are most likely the result of ancestral unbalanced translocations that have been fixed in the genome during recent primate evolution.
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