RGD Reference Report - Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome. - Rat Genome Database

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Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.

Authors: Van der Pluijm, I  Garinis, GA  Brandt, RM  Gorgels, TG  Wijnhoven, SW  Diderich, KE  De Wit, J  Mitchell, JR  Van Oostrom, C  Beems, R  Niedernhofer, LJ  Velasco, S  Friedberg, EC  Tanaka, K  Van Steeg, H  Hoeijmakers, JH  Van der Horst, GT 
Citation: van der Pluijm I, etal., PLoS Biol. 2007 Jan;5(1):e2.
RGD ID: 10003139
Pubmed: PMID:17326724   (View Abstract at PubMed)
PMCID: PMC1698505   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pbio.0050002   (Journal Full-text)

Cockayne syndrome (CS) is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER). Here, complete inactivation of NER in Csb(m/m)/Xpa(-/-) mutants causes a phenotype that reliably mimics the human progeroid CS syndrome. Newborn Csb(m/m)/Xpa(-/-) mice display attenuated growth, progressive neurological dysfunction, retinal degeneration, cachexia, kyphosis, and die before weaning. Mouse liver transcriptome analysis and several physiological endpoints revealed systemic suppression of the growth hormone/insulin-like growth factor 1 (GH/IGF1) somatotroph axis and oxidative metabolism, increased antioxidant responses, and hypoglycemia together with hepatic glycogen and fat accumulation. Broad genome-wide parallels between Csb(m/m)/Xpa(-/-) and naturally aged mouse liver transcriptomes suggested that these changes are intrinsic to natural ageing and the DNA repair-deficient mice. Importantly, wild-type mice exposed to a low dose of chronic genotoxic stress recapitulated this response, thereby pointing to a novel link between genome instability and the age-related decline of the somatotroph axis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cockayne syndrome  ISOGhr (Mus musculus)10003139; 10003139 RGD 
Cockayne syndrome  IEP 10003139; 10003139 RGD 
Cockayne syndrome  ISOIgf1 (Mus musculus)10003139; 10003139 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ghr  (growth hormone receptor)
Igf1  (insulin-like growth factor 1)

Genes (Mus musculus)
Ghr  (growth hormone receptor)
Igf1  (insulin-like growth factor 1)

Genes (Homo sapiens)
GHR  (growth hormone receptor)
IGF1  (insulin like growth factor 1)


Additional Information