Evidence map›Paper›PMID 24552181›Full record

ArticleBMC research notes2014

Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.

Stefan Taudien, Klaus Huse, Marco Groth, Matthias Platzer

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Article in BMC research notes, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Stefan TaudienLeibniz Institute for Age Research - Fritz Lipmann Institute, Beutenbergstr, 11, D-07745 Jena, Germany. stau@fli-leibniz.de.
Klaus Huse
Marco Groth
Matthias Platzer

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCopy number variation (CNV) in the range from 2 to 12 per diploid genome is an outstanding feature of the beta-defensin gene (DEFB) cluster on human chromosome 8p23.1 numerously demonstrated by different methods. So far, CNV was proven for a 115 kb region between DEFB4 and 21 kb proximal of DEFB107 but the borders for the entire CNV repeat unit are still unknown. Our study aimed to narrow down the distal border of the DEFB cluster.

resultsWe established tests for length polymorphisms based on amplification and capillary electrophoresis with laser-induced fluorescence (CE-LIF) analysis of seven insertion/deletion (indel) containing regions spread over the entire cluster. The tests were carried out with 25 genomic DNAs with different previously determined cluster copy numbers. CNV was demonstrated for six indels between ~1 kb distal of DEFB108P and 10 kb proximal of DEFB107. In contrast, the most distal indel is not affected by CNV.

conclusionOur analysis fixes the minimal length of proven CNV to 157 kb including DEFB108P but excluding DEFB109P. The distal border between CNV and non-CNV part of the DEF cluster is located in the 59 kb interval chr8:7,171,082-7,230,128.

Indexed as

DNA Copy Number VariationsGene DosageMultigene Familybeta-DefensinsChromosome MappingChromosomes, Human, Pair 8Electrophoresis, CapillaryFluorescenceGene OrderHumansINDEL MutationIntronsPolymorphism, GeneticProtein IsoformsPseudogenesbeta-DefensinsProtein Isoforms

Identifiers

PMID24552181
PMCPMC3942070

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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.