Lecture 1 - Genomics Terminology (Chapt 1).pptx

Lecture 1 - Genomics Terminology (Chapt 1).pptx - BCH3101...

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BCH3101 Genomics Fall 2017
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Lecture 1 Omics: genomes transcriptome s proteomes
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GENOMICS - study of genomes (complete set of genes in organism) Fig.1.1 & 1.2 DNA RNA PROTEIN Genome Transcriptome Proteome transcription translation When large-scale... “…omics” implies large-scale, high-throughput studies TRANSCRIPTOMICS (FUNCTIONAL GENOMICS) - study of complete set of mRNAs in cell/ tissue/organism PROTEOMICS - study of complete set of proteins in cell/ tissue/organism
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Venter et al. Science 304:66, 2004 “…identified over one million new genes and almost 150 new types of bacteria ” from ocean water microbial populations ENVIRONMENTAL GENOMICS (METAGENOMICS) - study of collective genomes in an environmental community
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EPIGENOMICS Feinberg, Nature 447: 433, 2007 - genome-wide study of impact of chromatin structure on gene regulation - heritable effects of DNA methylation , histone modification ... Genetically identical mice but different DNA methylation states (eg. in regulatory region of brown-coat-colour agout gene) Diet of pregnant mother can shift distribution of coat colour in littermates Jirtle Nature Rev Genet 8:253, 2007 Single-cell epigenomics techniques Clarke et al. Genome Biol 17:72, 2016 “…[provides] exciting potential to transform our knowledge of gene regulation”
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PHARMACOGENOMICS - study of how human genetic makeup influences drug response Designer drugs & personalized medicine Johnson & Evans Trends Mol. Med . 8:300, 2002
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Watson & Crick 1953 – structure of DNA HUMAN GENOME SEQUENCE (some gaps & sequence ambiguities) Oct. 2004 - “ finished” euchromatic sequence Feb. 2001 - draft sequence … not including heterochromatin where there are very few genes
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How large is the human genome? 2001 papers in Nature & Science or Mbp Mega: 10 6 or kb kilo: 10 3 in base pairs (bp) Formally it should be kbp (since DNA is double-stranded), but often abbreviated to kb How many genes are present in the human genome? or billion bp International consortium (led by Francis Collins , NIH) Celera private company (CEO Craig Venter ) Your text (Brown, Genomes 3 rd ed. 2007, Table 7.4) says ?
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HUMAN NUCLEAR CHROMOSOMES In somatic cells (diploid) = 46 chromosomes 2 copies of 22 autosomes
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