Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.10.3.1 (tyrosinase)
 9,065 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The albino deletions identify at least seven functional intervals essential for pre- and postnatal development in the 6- to 10-cM region surrounding the albino coat color (c = tyrosinase) locus on mouse chromosome 7. The c112K deletion identifies a putative thymus functional region not removed by the overlapping c3H deletion. Cloning the c3H proximal breakpoint provided a starting point for construction of an 840-kb BAC contig spanning the c112K and c3H (D7Ssb3Hp) proximal breakpoints. These breakpoints are separated by 320-350 kb. The aryl hydrocarbon receptor nuclear translocator-2 (Arnt2) is completely removed by the c112K deletion and spans 130-170 kb of the interval. Although Arnt2 is a candidate for the thymus defects in c112K homozygotes, the possibility that other as yet unidentified genes in the c112K deletion are responsible for the abnormalities has not been ruled out. Arnt2 is a member of the bHLH-PAS (Per, Ahr, Arnt, Sim) family of transcription factors and shares the highest similarity with Arnt. The survival of c112K homozygotes markedly contrasts the embryonic lethality observed in Arnt-deficient embryos and suggests distinct roles for these related transcription factors during embryogenesis.
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PMID:Physical localization of the mouse aryl hydrocarbon receptor nuclear translocator-2 (Arnt2) gene within the c112K deletion. 972 45

Immunotherapy treatments for cancer are becoming increasingly successful, however to further improve our understanding of the T-cell recognition involved in effective responses and to encourage moves towards the development of personalised treatments for leukaemia immunotherapy, precise antigenic targets in individual patients have been identified. Cellular arrays using peptide-MHC (pMHC) tetramers allow the simultaneous detection of different antigen specific T-cell populations naturally circulating in patients and normal donors. We have developed the pMHC array to detect CD8+ T-cell populations in leukaemia patients that recognise epitopes within viral antigens (cytomegalovirus (CMV) and influenza (Flu)) and leukaemia antigens (including Per Arnt Sim domain 1 (PASD1), MelanA, Wilms' Tumour (WT1) and tyrosinase). We show that the pMHC array is at least as sensitive as flow cytometry and has the potential to rapidly identify more than 40 specific T-cell populations in a small sample of T-cells (0.8-1.4 x 10(6)). Fourteen of the twenty-six acute myeloid leukaemia (AML) patients analysed had T cells that recognised tumour antigen epitopes, and eight of these recognised PASD1 epitopes. Other tumour epitopes recognised were MelanA (n = 3), tyrosinase (n = 3) and WT1(126-134) (n = 1). One of the seven acute lymphocytic leukaemia (ALL) patients analysed had T cells that recognised the MUC1(950-958) epitope. In the future the pMHC array may be used provide point of care T-cell analyses, predict patient response to conventional therapy and direct personalised immunotherapy for patients.
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PMID:Application of the pMHC Array to Characterise Tumour Antigen Specific T Cell Populations in Leukaemia Patients at Disease Diagnosis. 2649 14