RGD Reference Report - A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. - Rat Genome Database

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A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease.

Authors: Kelleher, CM  Silverman, EK  Broekelmann, T  Litonjua, AA  Hernandez, M  Sylvia, JS  Stoler, J  Reilly, JJ  Chapman, HA  Speizer, FE  Weiss, ST  Mecham, RP  Raby, BA 
Citation: Kelleher CM, etal., Am J Respir Cell Mol Biol. 2005 Oct;33(4):355-62. Epub 2005 Aug 4.
RGD ID: 1580326
Pubmed: PMID:16081882   (View Abstract at PubMed)
PMCID: PMC2715343   (View Article at PubMed Central)
DOI: DOI:10.1165/rcmb.2005-0206OC   (Journal Full-text)

We describe a novel variant in the terminal exon of human elastin, c.2318 G > A, resulting in an amino acid substitution of glycine 773 to aspartate (G773D) in a pedigree with severe early-onset chronic obstructive pulmonary disease (COPD). Transfection studies with elastin cDNAs demonstrate that the glycine to aspartate change compromises the ability of the mutant protein to undergo normal elastin assembly. Other functional consequences of this amino acid substitution include altered proteolytic susceptibility of the C-terminal region of elastin and reduced interaction of the exon 36 sequence with matrix receptors on cells. These results suggest that the G773D variant confers structural and functional consequences relevant to the pathogenesis of COPD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
chronic obstructive pulmonary disease  IAGP 1580326 RGD 
chronic obstructive pulmonary disease  ISOELN (Homo sapiens)1580326; 1580326 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Eln  (elastin)

Genes (Mus musculus)
Eln  (elastin)

Genes (Homo sapiens)
ELN  (elastin)


Additional Information