Prospective estimation of recombination signal efficiency and identification of functional cryptic signals in the genome by statistical modeling.

dc.contributor.author

Cowell, Lindsay G

dc.contributor.author

Davila, Marco

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Yang, Kaiyong

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Kepler, Thomas B

dc.contributor.author

Kelsoe, Garnett

dc.coverage.spatial

United States

dc.date.accessioned

2015-11-18T16:43:12Z

dc.date.issued

2003-01-20

dc.description.abstract

The recombination signals (RS) that guide V(D)J recombination are phylogenetically conserved but retain a surprising degree of sequence variability, especially in the nonamer and spacer. To characterize RS variability, we computed the position-wise information, a measure correlated with sequence conservation, for each nucleotide position in an RS alignment and demonstrate that most position-wise information is present in the RS heptamers and nonamers. We have previously demonstrated significant correlations between RS positions and here show that statistical models of the correlation structure that underlies RS variability efficiently identify physiologic and cryptic RS and accurately predict the recombination efficiencies of natural and synthetic RS. In scans of mouse and human genomes, these models identify a highly conserved family of repetitive DNA as an unexpected source of frequent, cryptic RS that rearrange both in extrachromosomal substrates and in their genomic context.

dc.identifier

http://www.ncbi.nlm.nih.gov/pubmed/12538660

dc.identifier.issn

0022-1007

dc.identifier.uri

https://hdl.handle.net/10161/10907

dc.language

eng

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Rockefeller University Press

dc.relation.ispartof

J Exp Med

dc.subject

Animals

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Base Sequence

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Conserved Sequence

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DNA

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Gene Rearrangement

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Genome

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Genome, Human

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Humans

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Mice

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Models, Genetic

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Models, Statistical

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Molecular Sequence Data

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Recombination, Genetic

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Sequence Homology, Nucleic Acid

dc.title

Prospective estimation of recombination signal efficiency and identification of functional cryptic signals in the genome by statistical modeling.

dc.type

Journal article

duke.contributor.orcid

Kelsoe, Garnett|0000-0002-8770-040X

pubs.author-url

http://www.ncbi.nlm.nih.gov/pubmed/12538660

pubs.begin-page

207

pubs.end-page

220

pubs.issue

2

pubs.organisational-group

Basic Science Departments

pubs.organisational-group

Biostatistics & Bioinformatics

pubs.organisational-group

Duke

pubs.organisational-group

Duke Cancer Institute

pubs.organisational-group

Duke Human Vaccine Institute

pubs.organisational-group

Immunology

pubs.organisational-group

Institutes and Centers

pubs.organisational-group

School of Medicine

pubs.publication-status

Published

pubs.volume

197

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