Protein Jagged 1, also known as JAG1, JAGL1 and CD339, is a single-pass type I membrane protein which contains 1DSL domain and 15EGF-like domains. JAG1/Jagged 1 is widely expressed in adult and fetal tissues. The expression of JAG1/Jagged 1 is up-regulated in cervical squamous cell carcinoma. JAG1/Jagged 1 is also expressed in bone marrow cell line HS-27a which supports the long-term maintenance of immature progenitor cells. JAG1/Jagged 1 is a ligand for multiple Notch receptors. It is involved in the mediation of Notch signaling. JAG1/Jagged 1 may be involved in cell-fate decisions during hematopoiesis. JAG1/Jagged 1 seems to be involved in early and late stages of mammalian cardiovascular development. It inhibits myoblast differentiation and enhances fibroblast growth factor-induced angiogenesis. Defects in JAG1/Jagged 1 are the cause of Alagille syndrome type 1 (ALGS1). Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. Defects in JAG1/Jagged 1 are also a cause of tetralogy of Fallot (TOF). TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation.
- Oda T.et al., 1997, Nat. Genet. 16:235-242.
- Krantz I.D. et al., 1998, Am. J. Hum. Genet. 62:1361-1369.
- Li L. et al., 1998, Immunity. 8:43-55.
- Jones E.A. et al., 2000, J. Med. Genet. 37: 658-662.
- Roepke A.et al., 2003, Hum. Mutat. 21:100-100.
- Jurkiewicz D.et al., 2005, Hum. Mutat. 25:321-321.
- Warthen D.M.et al., 2006, Hum. Mutat. 27:436-443.