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Human-mouse comparative genomics: successes and failures to reveal functional regions of the human genome

Journal Article · · Cold Spring Harbor Symposia on Quantitative Biology

Deciphering the genetic code embedded within the human genome remains a significant challenge despite the human genome consortium's recent success at defining its linear sequence (Lander et al. 2001; Venter et al. 2001). While useful strategies exist to identify a large percentage of protein encoding regions, efforts to accurately define functional sequences in the remaining {approx}97 percent of the genome lag. Our primary interest has been to utilize the evolutionary relationship and the universal nature of genomic sequence information in vertebrates to reveal functional elements in the human genome. This has been achieved through the combined use of vertebrate comparative genomics to pinpoint highly conserved sequences as candidates for biological activity and transgenic mouse studies to address the functionality of defined human DNA fragments. Accordingly, we describe strategies and insights into functional sequences in the human genome through the use of comparative genomics coupled wit h functional studies in the mouse.

Research Organization:
Ernest Orlando Lawrence Berkeley National Laboratory, Berkeley, CA (US)
Sponsoring Organization:
National Institutes of Health (US)
DOE Contract Number:
AC03-76SF00098
OSTI ID:
825058
Report Number(s):
LBNL--54664-Journal
Journal Information:
Cold Spring Harbor Symposia on Quantitative Biology, Journal Name: Cold Spring Harbor Symposia on Quantitative Biology Vol. 68; ISSN CSHSAZ; ISSN 0091-7451
Country of Publication:
United States
Language:
English

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