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Angaben zur Quelle [Bearbeiten]

Autor     Oleg A. Shchelochkov, S.W. Cheung, J.R. Lupski
Titel    Genomic and Clinical Characteristics of Microduplications in Chromosome 17
Zeitschrift    American Journal of Medical Genetics Part A: Medical Genetics
Ausgabe    152A
Jahr    2010
Seiten    1101-1110
DOI    10.1002/ajmg.a.33248
URL    http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33248/abstract

Literaturverz.   

no
Fußnoten    no
Fragmente    3


Fragmente der Quelle:
[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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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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[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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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.

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[3.] Mmu/Fragment 086 03 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:42:59 Singulus
Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Shchelochkov et al 2009, Verschleierung

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Decreased expression resulting from a gene deletion causes a phenotype usually similar to that observed with loss-of-function point mutations of a ‘‘dosage-sensitive’’ gene. Increased expression, resulting from gene duplication may convey clinical findings that are different, and sometimes divergent from the deletion phenotype (Bi 2009). Decreased expression resulting from a gene deletion causes a phenotype usually similar to that observed with loss-of-function point mutations, for example, nonsense and frame-shift alleles for a ‘‘dosage-sensitive’’ gene. Increased expression of a dosage-sensitive gene resulting from a gene duplication may convey clinical findings which are different, and sometimes divergent from the deletion phenotype [Potocki et al., 2007; Girirajan et al., 2008; Bi et al., 2009].
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