Search results for "Introns"

showing 3 items of 103 documents

Cloning of two melanocortin (MC) receptors in spiny dogfish

2004

We report the cloning and characterization of two melanocortin receptors (MCRs) from the spiny dogfish (Squalus acanthias) (Sac). Phylogenetic analysis shows that these shark receptors are orthologues of the MC3R and MC5R subtypes, sharing 65% and 70% overall amino acid identity with the human counterparts, respectively. The SacMC3R was expressed and pharmacologically characterized in HEK293 cells. The radioligand binding results show that this receptor has high affinity for adrenocorticotropic hormone (ACTH)-derived peptides while it has comparable affinity for alpha- and beta-melanocyte stimulating hormone (MSH), and slightly lower affinity for gamma-MSH when compared with the human ortho…

medicine.medical_specialtyGreen Fluorescent ProteinsMolecular Sequence DataCHO CellsAdrenocorticotropic hormoneBiologyPolymerase Chain ReactionBiochemistryCell LineRadioligand Assaygamma-MSHAdrenocorticotropic HormoneCricetinaeInternal medicineCyclic AMPEscherichia colimedicineAnimalsHumansPotencyBacteriophagesTissue DistributionAmino Acid SequenceMelanocyte-Stimulating HormonesCloning MolecularReceptorPhylogenyGene Librarychemistry.chemical_classificationSpiny dogfishDose-Response Relationship DrugSequence Homology Amino AcidReverse Transcriptase Polymerase Chain ReactionChinese hamster ovary cellHEK 293 cellsSequence Analysis DNAbiology.organism_classificationMolecular biologyIntronsAmino acidBlotting SouthernKineticsEndocrinologychemistryDogfishReceptor Melanocortin Type 4MelanocortinPeptidesReceptor Melanocortin Type 3European Journal of Biochemistry
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Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations

1999

Two biallelic polymorphisms in introns 3 and 6 of the p53 gene were analysed for a possible risk-modifying effect for ovarian cancer. Germline DNA was genotyped from 310 German Caucasian ovarian cancer patients and 364 healthy controls. We also typed 124 affected and 276 unaffected female carriers with known deleterious BRCA1 or BRCA2 germline mutation from high-risk breast-ovarian cancer families. Genotyping was based on PCR and high-resolution gel electrophoresis. German ovarian cancer patients who carried the rare allele of the MspI restriction fragment length polymorphism (RELP) in intron 6 were found to have an overall 1.93-fold increased risk (95% confidence internal (CI) 1.27–2.91) w…

p53AdultCancer Researchendocrine system diseasesAdolescentGenotypeGenes BRCA1BiologypolymorphismGermline mutationRisk FactorsGenotypemedicineTumor Cells CulturedHumansAlleleAllele frequencyGerm-Line MutationAgedGeneticsAged 80 and overBRCA2 ProteinOvarian NeoplasmsGenetic Carrier ScreeningCancerGenetic VariationRegular ArticleMiddle Agedmedicine.diseaseBRCA2 ProteinBRCA1Genes p53BRCA2IntronsNeoplasm Proteinsovarian cancerOncologyCase-Control StudiesCancer researchFemaleRestriction fragment length polymorphismOvarian cancergenetic susceptibilityTranscription FactorsBritish Journal of Cancer
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Conservation of the positions of metazoan introns from sponges to humans

2002

Abstract Sponges (phylum Porifera) are the phylogenetic oldest Metazoa still extant. They can be considered as reference animals (Urmetazoa) for the understanding of the evolutionary processes resulting in the creation of Metazoa in general and also for the metazoan gene organization in particular. In the marine sponge Suberites domuncula , genes encoding p38 and JNK kinases contain nine and twelve introns, respectively. Eight introns in both genes share the same positions and the identical phases. One p38 intron slipped for six bases and the JNK gene has three more introns. However, the sequences of the introns are not conserved and the introns in JNK gene are generally much longer. Intron…

xMolecular Sequence Datap38 Mitogen-Activated Protein KinasesExonGene duplicationGeneticsAnimalsHumansCoding regionGroup I catalytic intronAmino Acid SequenceGeneConserved SequencePhylogenyCaenorhabditis elegansGeneticsBase SequenceSequence Homology Amino AcidbiologyCalcium-Binding ProteinsMicrofilament ProteinsJNK Mitogen-Activated Protein KinasesIntronDNASequence Analysis DNAGeneral MedicineGroup II intronbiology.organism_classificationIntronsPoriferaDNA-Binding ProteinsMitogen-Activated Protein KinasesSequence AlignmentGene
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