The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
M OLECULAR M ECHANISMS FOR G ENOMIC D ISORDERS
Abstract
▪ Abstract Genomic rearrangements play a major role in the pathogenesis of human genetic diseases. Nonallelic homologous recombination (NAHR) between low-copy repeats (LCRs) that flank unique genomic segments results in changes of genome organization and can cause a loss or gain of genomic segments. These LCRs appear to have arisen recently during primate speciation via paralogous segmental duplication, thus making the human species particularly susceptible to genomic rearrangements. Genomic disorders are defined as a group of diseases that result from genomic rearrangements, mostly mediated by NAHR. Molecular investigations of genomic disorders have revealed genome architectural features associated with susceptibility to rearrangements and the recombination mechanisms responsible for such rearrangements. The human genome sequence project reveals that LCRs may account for 5% of the genome, suggesting that many novel genomic disorders might still remain to be recognized.
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Cites
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Cited by
Mechanisms of change in gene copy number
Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316
Self-citationChromosome 21 and Down syndrome: from genomics to pathophysiology
Antonarakis, S. E., Lyle, R., Dermitzakis, E. T., Reymond, A., & Deutsch, S. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1448 · Cited by 703
Copy-number variation and association studies of human disease
McCarroll, S. A., & Altshuler, D. M. (2007) · Nature Genetics · doi:10.1038/ng2080 · Cited by 622
Copy number variations and cancer
Shlien, A., & Malkin, D. (2009) · Genome Medicine · doi:10.1186/gm62 · Cited by 386
Common deletions and SNPs are in linkage disequilibrium in the human genome
Hinds, D. A., Kloek, A. P., Jen, M., Chen, X., & Frazer, K. A. (2006) · Nature Genetics · doi:10.1038/ng1695 · Cited by 372
Metadata
- Authors
- Inoue, K., & Lupski, J. R.
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2002-09
- Volume
- 3
- Issue
- 1
- Pages
- 199-242
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2170612945
- Cited by
- 318
- References
- 8
- FWCI
- 1.58
- Type
- journal article
- Language
- en
- Open access
- closed
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