Physiological Genomics

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Presentation transcript:

Physiological Genomics Dr. Marko Ljubković Department of Physiology

Human genome project Initiated in 1990 15 years and $3B Approx. 30 000 genes identified Small portion of DNA code for proteins

Opened questions How to recognize the gene? Significance of the non-coding regions? How to understand the gene function?

Parallel projects Similar genome projects in animal species Comparative genomics

Deciphering function of the genes Use of animal models Application of various genomic tools Development of technology (multidisciplinary approach) gene knockout Transgenic animals

Linking the phenotype (disease) to the gene Animal models Example Salt sensitive rat (hypertensive) Brown-norway rat (normotensive) SSBN 13 – reduced hypertension Generation of consomic animals

Linking the phenotype to the gene Narrow down the region of interest (congenic animals) Analyze the candidate genes How to pinpoint the specific gene?

Linking the disease to the gene Human studies Phenotypic analyses Cases and controls Whole-genome scanning Determine the regions of interest (QTLs) Identify candidate genes Confirm in animal models (knockout) Transgenic rescue