ArticleAmerican journal of human genetics2006
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 96 citations in OpenAlex.
- Fertility problems in males carrying an inversion of chromosome 10.Open medicine (Warsaw, Poland) · 2021Article
- Cytogenetically visible inversions are formed by multiple molecular mechanisms.Human mutation · 2020Article
- Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.Journal of human genetics · 2020Article
- Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.Human molecular genetics · 2014Article
- Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.PLoS genetics · 2014Article
- InvFEST, a database integrating information of polymorphic inversions in the human genome.Nucleic acids research · 2014Article
- A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.Molecular cytogenetics · 2014Article
- Identification of polymorphic inversions from genotypes.BMC bioinformatics · 2012Article
- On the frequency of copy number variants.Bioinformatics (Oxford, England) · 2008Article
- Investigation of the origins of human autosomal inversions.Human genetics · 2008Article
- The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.American journal of human genetics · 2007Article
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and sequencing of the junction fragments on 10p11 and 10q21 revealed that neither inversion breakpoint directly involved any genes or repetitive sequences, although both breakpoint regions contain a number of repeats. All 20 apparently unrelated inv(10) families in our study had identical breakpoints, and detailed haplotype analysis showed that the inversions were identical by descent. Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans.
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