WormBase Tree Display for Disease_model_annotation: WBDOannot00000379
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| WBDOannot00000379 | Disease_term | DOID:14323 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Disease_relevant_gene | WBGene00001076 | |
| Association_type | is_implicated_in | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00046710 | ||
| Disease_model_description | Mutations in the human gene FBN1 (Fibrillin 1) are implicated in Marfan syndrome, a heritable autosomal dominant disorder of fibrous connective tissue; signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression; the primary features of Marfan syndrome are vision problems caused by a dislocated lens, connective tissue and skeletal defects such as elongated extremities, joint hypermobility and scoliosis; C. elegans mua-3 shares high homology with FBN1, mua-3 is required for tissue integrity and attachment, mua-3 mutants show internal organ detachment; further studies in C. elegans indicate that dpy-17, a collagen acts as a genetic suppressor of mua-3, and interacts with dpy-31, a BMP-1/Tolloid-like metalloprotease required for TGF activation in mammals; knock-down of dbl-1, a TGF homolog, in mua-3 modestly rescued the lethality of mua-3 mutants, suggesting a potentially conserved interaction between MUA-3 and a TGF pathway; these genes provide a genetic model to study TGF function in development of Marfan pathology. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 25 Sep 2015 00:00:00 |
