Large-scale copy number polymorphism in the human genome

Sebat, J., Lakshmi, B., Troge, J. E., Alexander, J., Young, J., Lundin, P., Maner, S., Massa, H., Walker, M., Chi, M., Navin, N. E., Lucito, R., Healy, J., Hicks, J. B., Ye, K., Reiner, A., Gilliam, T. C., Trask, B., Patterson, N., Zetterberg, A., Wigler, M. H. (July 2004) Large-scale copy number polymorphism in the human genome. Science, 305 (5683). pp. 525-8. ISSN 1095-9203 (Electronic)

URL: http://www.ncbi.nlm.nih.gov/pubmed/15273396
DOI: 10.1126/science.1098918

Abstract

The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length of a CNP interval was 465 kilobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.

Item Type: Paper
Uncontrolled Keywords: Alleles Bacterial Proteins/metabolism Cell Line, Transformed Chromosome Aberrations Chromosome Mapping Chromosomes, Human/genetics Deoxyribonuclease HindIII/metabolism Deoxyribonucleases, Type II Site-Specific/metabolism Female Gene Deletion Gene Dosage Gene Duplication Gene Frequency Genome, Human Humans Male Markov Chains Oligonucleotide Array Sequence Analysis Polymorphism, Genetic Variation (Genetics)
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > copy number variants
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes
organism description > animal > mammal > primates > hominids > human
CSHL Authors:
Communities: CSHL labs > Hicks lab
CSHL labs > Lucito lab
CSHL labs > Sebat lab
CSHL labs > Wigler lab
Watson School > Publications
Depositing User: Matt Covey
Date: 23 July 2004
Date Deposited: 04 Mar 2013 20:35
Last Modified: 07 Jan 2019 19:39
Related URLs:
URI: http://repository.cshl.edu/id/eprint/27708

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