Publication Date:
2004-07-27
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sebat, Jonathan -- Lakshmi, B -- Troge, Jennifer -- Alexander, Joan -- Young, Janet -- Lundin, Par -- Maner, Susanne -- Massa, Hillary -- Walker, Megan -- Chi, Maoyen -- Navin, Nicholas -- Lucito, Robert -- Healy, John -- Hicks, James -- Ye, Kenny -- Reiner, Andrew -- Gilliam, T Conrad -- Trask, Barbara -- Patterson, Nick -- Zetterberg, Anders -- Wigler, Michael -- 5T32 CA069311/CA/NCI NIH HHS/ -- CA078544/CA/NCI NIH HHS/ -- CA81674/CA/NCI NIH HHS/ -- DC004209/DC/NIDCD NIH HHS/ -- GM057070/GM/NIGMS NIH HHS/ -- HG02606/HG/NHGRI NIH HHS/ -- New York, N.Y. -- Science. 2004 Jul 23;305(5683):525-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15273396" target="_blank"〉PubMed〈/a〉
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
;
*Genetic Variation
;
*Genome, Human
;
Humans
;
Male
;
Markov Chains
;
Oligonucleotide Array Sequence Analysis
;
*Polymorphism, Genetic
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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