ArticleGenome research2005
Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome.
Article in Genome research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 37 citations in OpenAlex.
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- Whole genome sequencing of low input circulating cell-free DNA obtained from normal human subjects.Physiological reports · 2021Article
- Rapid molecular assays to study human centromere genomics.Genome research · 2017Article
- Genomic characterization of large heterochromatic gaps in the human genome assembly.PLoS computational biology · 2014Article
- Efficient identification of Y chromosome sequences in the human and Drosophila genomes.Genome research · 2013Article
- Using population admixture to help complete maps of the human genome.Nature genetics · 2013Article
- Human centromere genomics: now it's personal.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Review
- Article
- A gene catalogue of the euchromatic male-specific region of the horse Y chromosome: comparison with human and other mammals.PloS one · 2011Article
- DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.PloS one · 2009Article
- Article
- Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids.PloS one · 2009Article
- Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids.BMC evolutionary biology · 2008Article
- Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions.Genome research · 2008Article
- MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome.Nucleic acids research · 2008Article
- Novel gene acquisition on carnivore Y chromosomes.PLoS genetics · 2006Article
- Human Y-chromosome variation and male dysfunction.Journal of molecular and genetic medicine : an international journal of biomedical research · 2005Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Basic medical research critically depends on the finished human genome sequence. Two types of gaps are known to exist in the human genome: those associated with heterochromatic sequences and those embedded within euchromatin. We identified and analyzed a euchromatic island within the pericentromeric repeats of the human Y chromosome. This 450-kb island, although not recalcitrant to subcloning and present in 100 tested males from different ethnic origins, was not detected and is not contained within the published Y chromosomal sequence. The entire 450-kb interval is almost completely duplicated and consists predominantly of interchromosomal rather than intrachromosomal duplication events that are usually prevalent on the Y chromosome. We defined the modular structure of this interval and detected a total of 128 underlying pairwise alignments (>/=90% and >/=1 kb in length) to various autosomal pericentromeric and ancestral pericentromeric regions. We also analyzed the putative gene content of this region by a combination of in silico gene prediction and paralogy analysis. We can show that even in this exceptionally duplicated region of the Y chromosome, eight putative genes with open reading frames reside, including fusion transcripts formed by the splicing of exons from two different duplication modules as well as members of the homeobox gene family DUX.
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