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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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[1.] Mmu/Fragment 085 01 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:53:09 Singulus
Fragment, Gesichtet, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop, Shchelochkov et al 2009

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KomplettPlagiat
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Untersuchte Arbeit:
Seite: 85, Zeilen: 1-14
Quelle: Shchelochkov et al 2009
Seite(n): 1101, Zeilen: l.col: 29 ff.
Genomic rearrangements describe mutational changes that alter genome structure (e.g., duplication, deletion, insertion, and inversion). These are different from the traditional mutation caused by Watson–Crick base pair alterations. Each of these rearrangements, excepting inversions, result in copy number variation (CNV) or change from the usual copy number of two for a given genomic segment or genetic locus of our diploid genome. Genomic rearrangements can represent polymorphisms that are neutral in function, or may produce abnormal phenotypes. The pathological conditions caused by genomic rearrangements are collectively defined as genomic disorders (Lupski 1998 and 2009). Due to the limited resolution of conventional cytogenetic techniques, the majority of genomic disorders were missed in the past, because the genomic rearrangements were not cytogenetically visible. However, high-resolution array comparative genomic hybridization (aCGH) techniques have revolutionized the approach to diagnosis of genomic disorders, and enabled the screen of the entire human genome for CNVs. Genomic rearrangements describe mutational changes that alter genome structure (e.g., duplication, deletion, insertion, and inversion). These are different from the traditional mutation caused by Watson–Crick base pair alterations. Each of these rearrangements, excepting inversions, result in copy number variation (CNV) or change from the usual copy number of two for a given genomic segment or genetic locus of our diploid genome. Genomic rearrangements can represent polymorphisms that are neutral in function, or may produce abnormal phenotypes. The pathological conditions caused by genomic rearrangements are collectively defined as genomic disorders [Lupski, 1998, 2009]. Due to the limited resolution of conventional cytogenetic techniques, the majority of genomic disorders were missed in the past, because the genomic rearrangements were not cytogenetically visible. However, high-resolution array comparative genomic hybridization (aCGH) techniques have revolutionized the approach to diagnosis of genomic disorders, and enabled the screen of the entire human genome for CNVs.
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The source is not mentioned.

Sichter
(Hindemith), SleepyHollow02

[2.] Mmu/Fragment 085 21 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:55:12 Singulus
Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Shchelochkov et al 2009, Verschleierung

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Untersuchte Arbeit:
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Seite(n): 1101, 1102, Zeilen: 1101: r.col: 12 ff.; 1102: l.col: 28 ff.
Duplications or deletions of regions on chromosome 17 have been implicated in a number of genomic disorders in humans (Lupski and Stankiewicz, 2005). Chromosome 17 has the second highest gene content amongst all chromosomes. It harbors several dosage-sensitive genes, including PMP22, PAFAH1B1,YWHAE, RAI1, and NF1, which have been implicated in a number of genomic disorders (Lupski, 2009). Genomic studies have elucidated the mechanisms underlying genomic rearrangements in chromosome 17 and their contribution to the clinical phenotypes.

44. Lupski JR & Stankiewicz P. 2005.Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49.

46. Lupski JR. 2009. Genomic disorders ten years on. Genome Med 1:42.

Duplications or deletions of regions on chromosome 17 have been implicated in a number of genomic disorders in humans [Lupski and Stankiewicz, 2005]. Genomic studies have provided us with insight into the complex genomic structure of chromosome 17. This elucidated the framework for our understanding of the mechanisms underlying genomic rearrangements in chromosome 17 and their contribution to the clinical phenotypes.

[page 1102]

Chromosome 17 has the second highest gene content amongst all chromosomes [Zody et al., 2006]. It harbors several dosage-sensitive genes, including PMP22, PAFAH1B1,YWHAE, RAI1, and NF1, which have been implicated in a number of genomic disorders [Lupski, 1998, 2009].


Lupski JR, Stankiewicz P. 2005.Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49.

Lupski JR. 2009. Genomic disorders ten years on. Genome Med 1:42.

Lupski JR. 1998. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417.

Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, BiW,Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O’Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C. 2006. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 440:1045–1049.

Anmerkungen

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Sichter
(Hindemith), SleepyHollow02


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