Changes
From Biolecture.org
no edit summary
<p style="text-align:center"><span style="font-size:36px"><Index of Chapter 1></span></p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>The human genome</samp></strong></span></span></span></span></p>
<p><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><samp>Phenotype = Genotype +Environment + Life history + Epigenetics</samp></span></span></p>
<p>Genotype is DNA sequence both nuclear and mitochondrial. </p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>Contents of the human genome</samp></strong></span></span></span></span></p>
<p>Francis Crick encapsulated this scheme in the Central Dogma of Molecular biology. </p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>Genes that encode the proteome</samp></strong></span></span></span></span></p>
<p>Proteome- that is the amino acid sequences of the proteins expressed. However, several mechanisms introduce additional variety into the genome - protemeome relationship.</p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>Varieties of genome organization</samp></strong></span></span></span></span></p>
<p>Chromosomes. organlleles, and plasmids. </p>
<p>The most general classification of cells, according to both their structure and molecular biology, divides prokaryotes, simple cells without a nucleus, from eukaryotes, cells with nuclei.</p>
<p>In a eukaryotic cell, most of the DNA is sequestered in the nuclesus. The nucleus is the site of DNA replication and RNA synthesis in gene transcription. </p>
<p>Genes -As they come off the sequencing machines, genomes are long strings of As, Ts, Cs, Fs withous captions or sign posts. </p>
<p>Protein coding regions</p>
<p>Some regions are expressed as non- protein coding RNA</p>
<p>Other regions are targets of regulatory interactions</p>
<p>Dynamic components of genomes</p>
<p>-Transposable elements</p>
<p>-Retrotransposons</p>
<p>-Transposons</p>
<p>-LINES and SINES</p>
<p> </p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Genome sequencing projects</strong></span></span></span></span></p>
<p>Many genome projects target individual species. In addition, a major component of public DNA sequence data repositories comes from metagenomic data. These are sequences determined from environmental samples, without isolating indicidual organisms. </p>
<p>Genome projects and the development of our current information library</p>
<p>High-throughput DNA sequencing - single end reand & paired end read</p>
<p>-High throughput sequencing</p>
<p>-De novo sequencing </p>
<p>-Resequencing</p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Variations within and between populations</strong></span></span></span></span></p>
<p>-Cancer genome sequencing </p>
<p>Healthy cells do accumulate mutations at a modest rate. Cancer cells that have lost checks on acuracy of DNA replication accumulate mutations copiously.</p>
<p>To distinguish variations arising from the disease it's preferable to compare the seuquences from same individual</p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Human genome sequencing</strong></span></span></span></span></p>
<p>SNPs( Single nucleotide polymorphisms)</p>
<p>Haplotpyes</p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>The human genome and medicine</strong></span></span></span></span></p>
<p>Prevention of disease</p>
<p>Detection and precise diagnosis</p>
<p>EX. Huntington's disease</p>
<p>Discovery and implementation of effective treatment</p>
<p>Health care delivery</p>
<p> </p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>The evolution and development of databases<samp/strong>Genome sequencing projects</sampspan></strongspan></span></span></spanp> </spanp>Sources of biological data include several high- throughput streams including</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>Variations within and between populations</samp></strong></span></span></span></span>Systematic genome sequencing </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>Human genome sequencing</samp></strong></span></span></span></span>Protein expression patterns</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>The human genome and medicine</samp></strong></span></span></span></span>Metabolic pathways</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>The evolution Protein interaction Patterns and development of databases</samp></strong></span></span></span></span>regulatory networks. </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms_ The scientific literature,cursive"><span style="color:#0000CD"><strong><samp>Protein evolution : Divergence of sequences and structures within and between species</samp></strong></span></span></span></span>inclding bibliographcial databases. </p>
<p><span class="marker"><span style="fontDatavank evo-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong><samp>Ethical, lega and social issues</samp>devo</strongp> </span></span></span></spanp>Genome browsers. </p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Protein evolution : Divergence of sequences and structures within and between species</strong></span></span></span></span></p>
<p>Different globins diverged from a common ancestor</p>
<p> </p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Ethical, lega and social issues</strong></span></span></span></span></p>
<p>Databases containing human DNA sequence information. </p>
<p>-DNA sequence databases, law enforcement and the courts (Samples)</p>
<p>Ethical considerations for compiling DNA databases. </p>
<p>______________________________________________________________________________________________________KSI</p>
