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Typus
BauernOpfer
Bearbeiter
Graf Isolan
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Untersuchte Arbeit:
Seite: 89, Zeilen: 19-25
Quelle: Lupski and Stankiewicz 2005
Seite(n): 0631, Zeilen: left col. 16-26
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.

Anmerkungen

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Sichter
(Graf Isolan), SleepyHollow02

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