Unser Haushund: Eine Spitzmaus im Wolfspelz? - Wolf-Ekkehard ...

230ersten Hinweise auf eventuelle Folgen von Fehlfunktionen entnehmen; weitereInformationen in den aufgeführten Quellen):FGF4, fibroblast growth factor 4 (codiert für 206 amino acids)"Subunit: Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) andtheir receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.”"Fibroblast growth factor 4 is a protein that in humans is encoded by the FGF4 gene.[1][2]The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family memberspossess broad mitogenic and cell survival activities and are involved in a variety of biological processes includingembryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene wasidentified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are locatedclosely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on themouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH)signaling pathway.[2]" 418FGF5, fibroblast growth factor 5 (codiert für 268 amino acids)"Subunit: Interacts with FGFR1 and FGFR2.” 419"The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family memberspossess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, includingembryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene wasidentified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeteddisruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested afunction as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms havebeen identified.[3]The disruption of FGF5 expression in mammals increases the length of the anagen (growth) phase of the haircycle, resulting in a phenotype of extremely long hair. This has been shown in many species, including cats,[4]dogs,[5] mice,[6] rabbits, sheep and goats (the so-called angora mutation)[7][8] and even elephants andmammoths.[9] FGF5 also affects the hair cycle in humans; blocking FGF5 in the human scalp (by applying a herbalextract that blocked FGF5) extends the hair cycle, resulting in less hair fall and increased hair growth.[10]." 420FGF19, fibroblast growth factor 19 (codiert für 216 amino acids)"Function: Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression,following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activityrequires the presence of KLB and FGFR4."http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGF19&search=FGF19"This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected onlyin fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to berequired for initiation of inner ear development. [3]” http://en.wikipedia.org/wiki/FGF19FGFR3, fibroblast growth factor receptor 3 (codiert für 806 [isoform 2: 808] amino acids)(Wiederholung bis STAT5B:) "Function: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growthfactors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essentialrole in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normalskeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotesapoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of theinner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signalingcascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediatesactivation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinaseactivation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Overexpressedor constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B.”TOCRIS summary for FGFR3:"Fibroblast growth factors (FGFs) (FGF1 - 10 and 16 - 23) are mitogenic signaling molecules that have roles inangiogenesis, wound healing, cell migration, neural outgrowth and embryonic development. FGFs bind heparan sulfateglycosaminoglycans (HSGAGs), which facilitates dimerization (activation) of FGF receptors (FGFRs). FGFRs aretransmembrane catalytic receptors that have intracellular tyrosine kinase activity. There are four human genesencoding FGFRs, which produce seven different receptors (FGFR1b, FGFR1c, FGFR2b, FGFR2c, FGFR3b,FGFR3c and FGFR4) due to alternative splicing events occurring both in the extracellular and intracellularregions. The alternative splice isoforms are generally tissue specific: the b isoform is expressed in epithelial tissue,418 http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGF4&search=FGF4 und http://en.wikipedia.org/wiki/FGF4 (21.12. 2012)419 http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGF5 (21. 12. 2012)420 http://en.wikipedia.org/wiki/FGF5