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L’objectif de ce travail est de décrire les actions du gène MITF (microphthalmia-associated transcription factor) sur le développement des organismes vivants et d’investiguer l’origine génétique d’un pattern particulier de coloration sombre du bas des membres chez des bovins de robe pie appartenant à la race Blanc-Bleu Belge (BBB). La coloration des animaux est régulée par la quantité de mélanocytes présents dans la peau et les poils, et par la synthèse de mélanine par ces cellules pigmentaires. Le gène MITF est essentiel pour le développement et la survie de ces cellules. Des mutations dans ce gène provoquent notamment l’apparition de motifs blancs sur le pelage des mammifères. Ce gène est polymorphe et interagit avec d’autres gènes actifs sur les mélanocytes. De part les autres effets majeurs que possède MITF dans de nombreuses voies du développement embryonnaire, les conséquences de certaines mutations peuvent être tragiques (e.g. syndrome du Fleckvieh blanc allemand). Le Dr. Charlier et moi-même avons remarqué que certains bovins BBB pies possédaient un dessin de robe peu commun, où le bas des membres était coloré. Nous avons décidé d’utiliser le terme « balzanes » pour nommer cette caractéristique. Nous avons donc entrepris une approche génétique pour déterminer la cause de ce pattern. Après plusieurs recherches, observations et bon nombre de génotypages de prélèvements sanguins de bovins, nous avons pu déterminer une mutation dans une partie non codante du gène MITF. Cette mutation n’a pas d’effets délétères connus et se transmet de façon dominante dans la population. The aim of this work is to describe the actions of the MITF gene (microphthalmia-associated transcription factor) on the development of living organisms and to investigate the genetic origin of a particular pattern of dark coloration of the lower limbs in piebald cattle belonging to the Belgian White-Blue (B W-B) breed. The coloring of animals is regulated by the quantity of melanocytes present in the skin and the hairs, and by the synthesis of melanin by these pigment cells. The MITF gene is essential for the development and survival of these cells. Mutations in this gene notably cause the appearance of white patterns on the coat of mammals. This gene is polymorphic and interacts with other genes active on melanocytes. Because of the other major effects that MITF has in many pathways of embryonic development, the consequences of certain mutations can be tragic (e.g. German white Fleckvieh syndrome). Dr. Charlier and I noticed that some BBB pie cattle had an unusual coat design, where the bottom of the limbs were colored. We decided to use the term "balzanes" to name this characteristic. We therefore undertook a genetic approach to determine the cause of this pattern. After several researches, observations and a good number of genotypes of blood samples from cattle, we were able to determine a mutation in a non-coding part of the MITF gene. This mutation has no known deleterious effects and is transmitted dominantly in the population.

cattle, B W-B, MITF, genotyping --- Sciences du vivant > Génétique & processus génétiques

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The book presents several studies reporting advances on melanoma pathogenesis, diagnosis and therapy. It represents a milestone on the state of the art, updated at 2021, and also presents the current knowledge on the future developments in melanoma field.

Medicine --- melanoma --- invasion --- WNT5A --- MARCKS --- phosphorylation --- MANS peptide --- nanoparticles --- cell therapy --- tumor microenvironment --- sex/gender --- sex-hormones --- immunity --- microRNAs --- immunotherapy --- BRAF-mutant melanoma --- BRAF inhibitor --- mechanism of action --- targeted therapy --- tumour microenvironment --- plasmacytoid dendritic cells --- lactate dehydrogenase --- TLR --- interferon --- CXCL10 --- TPC2 --- HIPPO --- SOCE --- metastasis --- essential oils --- angiogenesis --- apoptosis --- uveal melanoma (UM) --- metastatic uveal melanoma (mUM) --- prognostication --- adjuvant therapy --- metastatic therapy --- metastatic dormancy --- liver-directed-therapies --- targeted-therapy --- combined therapy --- protein tyrosine phosphatase --- PTPs inhibitors --- melanoma immune infiltrate --- BRAF inhibitors --- microenvironment --- resistance --- therapy --- therapeutic resistance --- exosomes --- extracellular vesicles --- diagnosis --- prognosis --- ctDNA --- liquid biopsy --- prediction --- patient stratification --- BRAF --- arthralgia --- rheumatoid arthritis --- carbonic anhydrase --- hedgehog --- cyclopamine --- small molecules --- acetazolamide --- motility --- metalloproteinases --- FAK --- cancer --- mucosal melanoma --- nivolumab --- pembrolizumab --- ipilimumab --- radiotherapy --- cholinergic system --- acetylcholine --- muscarinic receptors --- nicotinic receptors --- melanoma metastasis --- ShcD adaptor protein --- amoeboid motility --- Rac1 --- DOCK4 --- melanoma PDX --- target therapy --- cancer stem cells --- slow cycling phenotype --- drug resistance --- OXPHOS --- lipid metabolism --- cancer associated fibroblast --- melanomagenesis --- biomarkers --- checkpoint inhibitor --- PD-1 --- melanoma markers --- cytokines --- machine learning --- Support Vector Machine --- principal component analysis --- BCL2L10 --- STAT3 --- cytotoxicity --- survival --- ABT-737 --- Bcl-2 family --- ML258 --- HuR --- MITF --- metastases --- siRNA --- melanoma --- invasion --- WNT5A --- MARCKS --- phosphorylation --- MANS peptide --- nanoparticles --- cell therapy --- tumor microenvironment --- sex/gender --- sex-hormones --- immunity --- microRNAs --- immunotherapy --- BRAF-mutant melanoma --- BRAF inhibitor --- mechanism of action --- targeted therapy --- tumour microenvironment --- plasmacytoid dendritic cells --- lactate dehydrogenase --- TLR --- interferon --- CXCL10 --- TPC2 --- HIPPO --- SOCE --- metastasis --- essential oils --- angiogenesis --- apoptosis --- uveal melanoma (UM) --- metastatic uveal melanoma (mUM) --- prognostication --- adjuvant therapy --- metastatic therapy --- metastatic dormancy --- liver-directed-therapies --- targeted-therapy --- combined therapy --- protein tyrosine phosphatase --- PTPs inhibitors --- melanoma immune infiltrate --- BRAF inhibitors --- microenvironment --- resistance --- therapy --- therapeutic resistance --- exosomes --- extracellular vesicles --- diagnosis --- prognosis --- ctDNA --- liquid biopsy --- prediction --- patient stratification --- BRAF --- arthralgia --- rheumatoid arthritis --- carbonic anhydrase --- hedgehog --- cyclopamine --- small molecules --- acetazolamide --- motility --- metalloproteinases --- FAK --- cancer --- mucosal melanoma --- nivolumab --- pembrolizumab --- ipilimumab --- radiotherapy --- cholinergic system --- acetylcholine --- muscarinic receptors --- nicotinic receptors --- melanoma metastasis --- ShcD adaptor protein --- amoeboid motility --- Rac1 --- DOCK4 --- melanoma PDX --- target therapy --- cancer stem cells --- slow cycling phenotype --- drug resistance --- OXPHOS --- lipid metabolism --- cancer associated fibroblast --- melanomagenesis --- biomarkers --- checkpoint inhibitor --- PD-1 --- melanoma markers --- cytokines --- machine learning --- Support Vector Machine --- principal component analysis --- BCL2L10 --- STAT3 --- cytotoxicity --- survival --- ABT-737 --- Bcl-2 family --- ML258 --- HuR --- MITF --- metastases --- siRNA