Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. Research Abstract Details 

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Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. Abstract Text:

Jaan-Olle Andressoo,Judith Jans,Jan de Wit,Frederic Coin,Deborah Hoogstraten,Marieke van de Ven,Wendy Toussaint,Jan Huijmans,H Bing Thio,Wibeke J van Leeuwen,Jan de Boer,Jean-Marc Egly,Jan H J Hoeijmakers,Gijsbertus T J van der Horst,James R Mitchell,

Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented. This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background. We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models. Alterations in this essential helicase, with functions in both DNA repair and basal transcription, result in diverse pathologies ranging from elevated UV sensitivity and cancer predisposition to accelerated segmental progeria. We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i) the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease-causing allele, (ii) differential developmental and tissue-specific functions of distinct Xpd allele products, and (iii) interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals. Our data suggest a re-evaluation of the contribution of "null" alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals.

Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. Publishing Authors By Initials

JO Andressoo,J Jans,J de Wit,F Coin,D Hoogstraten,M van de Ven,W Toussaint,J Huijmans,HB Thio,WJ van Leeuwen,J de Boer,JM Egly,JH Hoeijmakers,GT van der Horst,JR Mitchell,

For similar enzymes and coenzymes: enzymes: hydrolases: acid anhydride hydrolases: adenosine triphosphatases: dna helicases: xeroderma pigmentosum group d protein research abstracts see: enzymes and coenzymes: enzymes: hydrolases: acid anhydride hydrolases: adenosine triphosphatases: dna helicases: xeroderma pigmentosum group d protein research

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Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: PLoS biology

VOLUME: 4

Page Numbers: e322

Journal Abbreviation: PLoS Biol.

ISSN: 1545-7885

DAY: 3

MONTH: Oct

YEAR: 2006

Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101183755

Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. Keywords Mesh Terms:

KEYWORDS: Xeroderma Pigmentosum Group D Protein

MESH TERMS: genetics

Chemical & Substance for Abstract: Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. Information

Substance Name: Xeroderma Pigmentosum Group D Protein

Registry Number: EC 5.99.-

Grant and Affiliation Information for Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

AFFILIATION: Medical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.

Country: United States

AGENCY: United States NIEHS

GRANT: 1UO1 ES011044

ACRONYM: ES

MEDLINETA: PLoS Biol

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