Large-Scale Copy Number Polymorphism in the Human Genome-Reference-Cited by-同舟云学术

Large-Scale Copy Number Polymorphism in the Human Genome

Published:2004-07-23 Issue:5683 Volume:305 Page:525-528
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Sebat Jonathan¹²³⁴⁵,Lakshmi B.¹²³⁴⁵,Troge Jennifer¹²³⁴⁵,Alexander Joan¹²³⁴⁵,Young Janet¹²³⁴⁵,Lundin Pär¹²³⁴⁵,Månér Susanne¹²³⁴⁵,Massa Hillary¹²³⁴⁵,Walker Megan¹²³⁴⁵,Chi Maoyen¹²³⁴⁵,Navin Nicholas¹²³⁴⁵,Lucito Robert¹²³⁴⁵,Healy John¹²³⁴⁵,Hicks James¹²³⁴⁵,Ye Kenny¹²³⁴⁵,Reiner Andrew¹²³⁴⁵,Gilliam T. Conrad¹²³⁴⁵,Trask Barbara¹²³⁴⁵,Patterson Nick¹²³⁴⁵,Zetterberg Anders¹²³⁴⁵,Wigler Michael¹²³⁴⁵

Affiliation:

1. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

2. Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

3. Karolinska Institute, Stockholm SE-17176, Sweden.

4. Department of Applied Mathematics and Statistics, Stony Brook University, Stony Brook, NY 11794, USA.

5. Columbia Genome Center, Columbia University, New York, NY 10032, USA.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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