Segmental Duplications

Gonzalez E, Kulkami H, Bolivar H, et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-l/AIDS susceptibility. Science 2005 307(5714) 1434-1440. 

These two forms of duplication are very different one form mediated at the DNA level (segmental duplication), and another mediated at the RNA level (retro-transposition). Both mechanisms produce paralogs - a term for genes that make their appearance in more than one copy in the genome (albeit with possible modifications). 

Stankiewicz, P., Shaw, C.J., Whiters, M., lonue, K., Lupski, J.R. (2004) Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res., 14, 2209-2220. 

Goidts V, Cooper DN, Armengol L el al. Complex patterns of copy number variation at sites of segmental duplications an important category of structural variation in the human genome. Hum Genet 2006 120 270-284. 

Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol 2003 4 R25. 

Segmental duplications are normally divided into two classes depending on their chromosomal relationship to each other (referred to as being... 

Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications organization and impact within the current human genome project assembly. Genome Res 2001 11(6) 1005 1017. 

Samonte R.V. and Eichler E.E. (2002). Segmental duplications and the evolution of the primate genome. Nature Rev. Genet. 3 65-72. 

Uddin M, Sturge M, Peddle L, O Reilly DD, Rahman P. Genome-wide signatures of rearrangement hotspots within segmental duplications in humans. PLoS One. 2011 6 (12) e28853. doi 10.1371/journal.pone.0028853. 

Yoshimoto M, Ludkovski O, deGrace D, Williams JL, Evans A, Sircar K, Bismar TA, Nuin P, Squire JA. PTEN genomic deletions that characterize aggressive prostate cancer originate close to segmental duplications. Genes Chromosomes Cancer. 2012 51 149-60. 

Repeat elements are a significant port of almost any genome. Repetitive sequences can be primary divided into three classes local repeats (tandem repeats and simple sequence repeats), families of dispersed repeats (mostly Transposable Elements (TEs) and retrotransposed cellular genes), and segmental duplications (duplicated genomic fragments). 

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