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Autor     James R. Lupski, Pawel Stankiewicz
Titel    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes
Zeitschrift    PLOS Genetics
Ausgabe    1
Datum    December 2005
Nummer    6
Seiten    627-633
DOI    10.1371/journal.pgen.0010049
URL    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352149/pdf/pgen.0010049.pdf

Literaturverz.   

yes
Fußnoten    yes
Fragmente    2


Fragmente der Quelle:
[1.] Mmu/Fragment 089 19 - Diskussion
Zuletzt bearbeitet: 2014-11-19 19:21:33 Singulus
BauernOpfer, Fragment, Gesichtet, Lupski and Stankiewicz 2005, Mmu, SMWFragment, Schutzlevel sysop

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Seite: 89, Zeilen: 19-25
Quelle: Lupski and Stankiewicz 2005
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Other molecular mechanisms by which rearrangements of the genome may convey or alter a disease phenotype result from how the rearrangement on one chromosome affects or is affected by the allele on the other chromosome at that locus. These include the unmasking of either recessive mutations or functional polymorphisms of the remaining allele when a deletion occurs, and potential transvection effects via deletion of regulatory elements required for communication between alleles (Lupski and Stankiewicz 2005).

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

Other molecular mechanisms by which rearrangements of the genome may convey or alter a disease phenotype result from how the rearrangement on one chromosome affects or is affected by the allele on the other chromosome at that locus (Figure 3E and 3F). These include the unmasking of either recessive mutations (reviewed in [63]) or functional polymorphisms [64] of the remaining allele when a deletion occurs, and potential transvection (communication between alleles on homologous chromosomes) [16,17] effects via deletion of regulatory elements required for communication between alleles.

16. Yan J, Keener VW, Bi W, Walz K, Bradley A, et al. (2004) Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet 13: 2613–2624.

17. Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, et al. (2005) Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet 14: 983–995.

63. Shaffer LG, Ledbetter DH, Lupski JR (2001) Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, et al., editors. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill. pp. 6077–6096.

64. Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, et al. (2005) Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med 7: 479–483.

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Though taken verbatim nothing has been marked as a citation. All original references have been deleted. The source is named.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 092 20 - Diskussion
Zuletzt bearbeitet: 2014-11-19 10:00:59 Singulus
Fragment, Gesichtet, Lupski and Stankiewicz 2005, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

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Seite: 92, Zeilen: 20-30
Quelle: Lupski and Stankiewicz 2005
Seite(n): 631, Zeilen: l.col: last sentence
It is not clear to what extent such genomic changes are responsible for Mendelian or complex disease traits and common traits, or represent only benign polymorphic variation. Furthermore, some phenotypes caused by genomic rearrangements may not present until late adulthood. This age-dependent penetrance confounds the interpretation of genomic copy-number changes.

We know that rearrangements occur throughout the genome, and therefore it is plausible to assume that such rearrangements or CNVs could be associated with inherited or sporadic disease, susceptibility to disease, complex traits, or common benign traits, or could represent polymorphic variation with no apparent phenotypic consequences, depending on whether or not dosage-sensitive genes are affected by the rearrangement.

It is not clear to what extent such genomic changes are responsible for Mendelian or complex disease traits and common traits (including behavioral traits), or represent only benign polymorphic variation. [...] Furthermore, some phenotypes caused by genomic rearrangements (e.g., HNPP) may not present until late adulthood — if at all [5,6]. This age-dependent penetrance confounds the interpretation of genomic copy-number changes. [...]

[...] Nevertheless, it is clear that LCR/NAHR-generated rearrangements occur throughout the genome [1,2], and therefore it is not unreasonable to assume that such rearrangements or CNVs could be associated with inherited or sporadic (de novo rearrangement) disease, susceptibility to disease, complex traits, or common benign traits, or could represent polymorphic variation with no apparent phenotypic consequences (Figure 4), depending on whether or not dosage-sensitive genes are affected by the rearrangement.


1. Lupski JR (1998) Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14: 417–422.

2. Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18: 74–82.

5. Lupski JR, Garcia A (2001) Charcot-Marie-Tooth peripheral neuropathies and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, et al., editors. The metabolic and molecular bases of inherited diseases, 8th ed. New York: McGraw-Hill. pp. 5759–5788.

6. Lupski JR, Chance PF (2005) Hereditary motor and sensory neuropathies involving altered dosage or mutation of PMP22: The CMT1A duplication and HNPP deletion. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. Philadelphia: Elsevier Science. pp. 1659–1680.

Anmerkungen

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Sichter
(Hindemith), SleepyHollow02

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