ArticleGenome research2002
Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.
Article in Genome research, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 54 citations in OpenAlex.
- Genomic-microbial coevolution in human development: chromosome 2 fusion, and human accelerated regions.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation.Cell genomics · 2026Article
- Article
- Revised time estimation of the ancestral human chromosome 2 fusion.BMC genomics · 2022Article
- Genomic Organization of Microsatellites andAnimals : an open access journal from MDPI · 2022Article
- A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.Molecular cytogenetics · 2021Article
- Article
- Article
- FOXD3/FOXD4 is required for the development of hindgut in the rat model of anorectal malformation.Experimental biology and medicine (Maywood, N.J.) · 2018Article
- Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region.Molecular biology and evolution · 2017Article
- Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits.Nature genetics · 2017Article
- One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?Molecular cytogenetics · 2016Article
- Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy.Journal of clinical immunology · 2015Article
- On becoming neural: what the embryo can tell us about differentiating neural stem cells.American journal of stem cells · 2013Article
- A role for CTCF and cohesin in subtelomere chromatin organization, TERRA transcription, and telomere end protection.The EMBO journal · 2012Article
- Pax2 coordinates epithelial morphogenesis and cell fate in the inner ear.Developmental biology · 2010Article
- Update of human and mouse forkhead box (FOX) gene families.Human genomics · 2010Review
- DDX11L: a novel transcript family emerging from human subtelomeric regions.BMC genomics · 2009Article
- Structural divergence between the human and chimpanzee genomes.Human genetics · 2007Review
- Human subtelomeric duplicon structure and organization.Genome biology · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Various portions of the region surrounding the site where two ancestral chromosomes fused to form human chromosome 2 are duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations. At least 24 potentially functional genes and 16 pseudogenes reside in the 614-kb of sequence surrounding the fusion site and paralogous segments on other chromosomes. By comparing the sequences of genomic copies and transcripts, we show that at least 18 of the genes in these paralogous regions are transcriptionally active. Among these genes are new members of the cobalamin synthetase W domain (CBWD) and forkhead domain FOXD4 gene families. Copies of RPL23A and SNRPA1 on chromosome 2 are retrotransposed-processed pseudogenes that were included in segmental duplications; we find 53 RPL23A pseudogenes in the human genome and map the functional copy of SNRPA1 to 15qter. The draft sequence of the human genome also provides new information on the location and intron-exon structure of functional copies of other 2q-fusion genes (PGM5, retina-specific F379, helicase CHLR1, and acrosin). This study illustrates that the duplication and rearrangement of subtelomeric and pericentromeric regions have functional relevance to human biology; these processes can change gene dosage and/or generate genes with new functions.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.