医学遗传学甲2014年课件chapter2gene structure and human genome.pptxVIP

General organization of the human genome20 000Organization of the human genomeGenome structureNuclear vs. mitochondrial genomesGene familiesTransposable elementsOther repeated sequencesOrganization of the human genomeNuclear genome3000 Mb23 (XX) or 24 (XY) linear chromosomes20-23,000 genes1 gene/40kbIntrons3% codingRepetitive DNA sequences (45%)Recombination Mendelian inheritance (X + auto, paternal Y)Organization of the human genomeContrasting gene densitiesSome regions of the genome are gene-rich and others are gene-poorHLA high densityDystrophin low densityHistone gene distribution2.2 Gene and genomeGene Structure and ExpressionHuman Gene Intron Structure6 nt7 nt15 ntGene Sizes Vary a LotOrganization of the human genomeGene familiesThought to be generated by gene duplicationFunctionally similar genes are occasionally clustered, but usually dispersed throughout the genomeOrganization of the human genomeGenes vary in size and exon contentA general inverse relationship.09_07.jpgExon content vs. length09_07_2.jpg09_07_3.jpgOrganization of the human genomeGenes within genesIntron 26 of the NF1 gene contains three internal genes.Organization of the human genomeGene families:defined by extensive DNA similarityAlpha and Beta globin genesdefined by large highly conserved domainsdefined by conserved amino acid motifsDEAD boxWD repeatsOrganization of the human genomeSuperfamiliesCommon structural featuresIg superfamilyCell surface receptorsOrganization of the human genomeHLA heavy chain gene cluster: an exampleGene fragmentsPseudogenesTruncated genesOrganization of the human genomeProcessed pseudogenesOriginate by reverse transcription of a processed transcriptTPRTOrganization of the human genomeMitochondrial genome: OriginEndosymbiont Hypothesis Ancient archaeal cell engulfed a proteobacterium and eventually came to rely on the symbiont for survival.EvidenceCircular genomeAutonomous ribosomesOrganization of the human genomeMitochondrial genomeSmall (16.5 kb) circular DNA1