ArticleGenome research2001
Sequence variability of a human pseudogene.
Article in Genome research, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 70 citations in OpenAlex.
- Is Gauchian genotyping of GBA1 variants reliable?Communications biology · 2025Article
- Genetic diversity and population structure assessment of Western Canadian barley cooperative trials.Frontiers in plant science · 2022Article
- Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.Translational neurodegeneration · 2021Review
- Long-term urbanization impacts the eastern golden frog (Evolutionary applications · 2021Article
- Characterization of DNA methylation-based markers for human body fluid identification in forensics: a critical review.International journal of legal medicine · 2020Review
- DNA-based Determination of Ancestry in Cynomolgus Macaques (Journal of the American Association for Laboratory Animal Science : JAALAS · 2018Article
- GBA-Associated Parkinson's Disease and Other Synucleinopathies.Current neurology and neuroscience reports · 2018Review
- The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.Scientific reports · 2017Article
- A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.Diseases (Basel, Switzerland) · 2017Review
- Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.BMC genetics · 2013Article
- Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation.Genome biology and evolution · 2013Article
- NANOGP8: evolution of a human-specific retro-oncogene.G3 (Bethesda, Md.) · 2012Article
- Article
- Understanding the accuracy of statistical haplotype inference with sequence data of known phase.Genetic epidemiology · 2007Article
- Transcription-related mutations and GC content drive variation in nucleotide substitution rates across the genomes of Arabidopsis thaliana and Arabidopsis lyrata.BMC evolutionary biology · 2007Article
- Evolution of the NANOG pseudogene family in the human and chimpanzee genomes.BMC evolutionary biology · 2006Article
- The prion protein gene in humans revisited: lessons from a worldwide resequencing study.Genome research · 2006Article
- Human F7 sequence is split into three deep clades that are related to FVII plasma levels.Human genetics · 2006Article
- A comparison of variation between a MHC pseudogene and microsatellite loci of the little greenbul (Andropadus virens).BMC evolutionary biology · 2005Article
- Comparative analysis of Alu insertion sequences in the APP 5' flanking region in humans and other primates.Journal of molecular evolution · 2004Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have obtained haplotypes from the autosomal glucocerebrosidase pseudogene (psGBA) for 100 human chromosomes from worldwide populations, as well as for four chimpanzee and four gorilla chromosomes. In humans, in a 5420-nucleotide stretch analyzed, variation comprises 17 substitutions, a 3-bp deletion, and a length polymorphism at a polyadenine tract. The substitution rate on the pseudogene (1.23 +/- 0.22 x 10(-9) per nucleotide and year) is within the range of previous estimates considering phylogenetic estimations. Recombination within the pseudogene was recognized, although the low variability of this locus prevented an accurate measure of recombination rates. At least 13% of the psGBA sequence could be attributed to gene conversion from the contiguous GBA gene, whereas the reciprocal event has been shown to lead to Gaucher disease. Human psGBA sequences showed a recent coalescence time (approximately 200,000 yr ago), and the most ancestral haplotype was found only in Africans; both observations are compatible with the replacement hypothesis of human origins. In a deeper timeframe, phylogenetic analysis showed that the duplication event that created psGBA could be dated at approximately 27 million years ago, in agreement with previous estimates.
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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.