Download Genomic Disorders: The Genomic Basis of Disease by James R. Lupski, Pawel T. Stankiewicz PDF

By James R. Lupski, Pawel T. Stankiewicz

A grand precis and synthesis of the great quantity of knowledge now on hand within the publish genomic period at the structural gains, structure, and evolution of the human genome. The authors show how such architectural gains can be vital to either evolution and to explaining the susceptibility to these DNA rearrangements linked to ailment. applied sciences to assay for such structural edition of the human genome and to version genomic problems in mice also are offered. appendices aspect the genomic problems, supplying genomic gains on the locus present process rearrangement, their scientific beneficial properties, and frequency of detection.

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Hum Mutat 2003;22:245–251. 32 Part II / Genomic Structure 21. Puget N, Sinilnikova OM, Stoppa-Lyonnet D, et al. An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet 1999;64:300–302. 22. Puget N, Torchard D, Serova-Sinilnikova OM, et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Research 1997;57:828–831. 23. Rohlfs EM, Chung CH, Yang Q, et al. In-frame deletions of BRCA1 may define critical functional domains. Hum Genet 2000;107:385–390.

Nature did not send our paper for review. , the de novo duplication data, the size of the duplication estimated at around 1 Mb, additional CMT1A duplication families), but nothing helped. ” This illustrated the disbelief in the scientific community that an autosomal dominant disease could result from a gene dosage defect, a genetic mechanism that now is commonly accepted! Also, in 1990 we did not have available the technology we have today, and cloning a gene from a larger than 1 Mb region was still a major challenge.

Deininger P, Batzer MA. Evolution of retroposons. , eds. New York, NY: Plenum Publishing, 1993; pp. 157–196. 9. Salem AH, Ray DA, Xing J, et al. Alu elements and hominid phylogenetics. Proc Natl Acad Sci USA 2003;100: 12,787–12,791. 10. Chesnokov I, Schmid CW. Flanking sequences of an Alu source stimulate transcription in vitro by interacting with sequence-specific transcription factors. J Mol Evol 1996;42:30–36. 11. Roy AM, West NC, Rao A, et al. Upstream flanking sequences and transcription of SINEs.

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