Gene and Genome

Prof. DR. dr. Hadyanto Lim, M.Kes, SpFK, FESC, FIBA, FAHA
Department of Pharmacology and Molecular Sciences, Faculty of Medicine, UMI- Medan Molecular Biology Research, Postgraduate School, USU

Molecular Biology
• Day/Date/Time *
Wed /19/9/12 Fri /21/9/12 Wed /26/10/12 Fri /28/10/12

Topic
Gene &Genome Expression of Genetic Information : From Transcription to Translation Control of Gene Expression DNA Replication and Repair

* Class A (9.00-10.00) Class B (800-900) FK UMI * 26-28 September 2012 ; Class A (11.00-12.00) Class B ( 10.00-11.00)

Nobel Laureates Medicine Watson Crick in Double Helix (Molecular Biology in 1962)

Francis Crick, Maurice Wilkins, James Watson

Discoveries on the Nature of the Gene .

.Discoveries on the Nature of the Gene • • • • • Discovery of discrete unit of inheritance Discovery of chromosome Discovery of homologous chromosome Discovery of crossing over Discovery that genes could be mapped in order along length of chromosomes • Discovery of DNA as genetic material • Discovery of DNA structure • Human Genome Project.

An individual plant possessed two copies of a gene that controlled the development of each trait. one derived from each parent. Alternate forms of a gene are called alleles. The characteristics of the plants were governed by distinct factors (or units) of inheritance. . later termed genes.Gene as a unit of inheritance • 1860s Gregor Mendel crossbred plants through several generations and counted the number of individuals having various characteristics : 1.

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and the other allele was inherited from the male parent. but they become separated (or segregated) from one another during the formation of the gametes. The pair of alleles that governed a trait remained together throughout the life of an individual plant. This finding formed the basis of Mendel’s “law of segregation.Gene as a unit of inheritance 2.” . One of the alleles that governed each trait in a plant was inherited from female parent. 3.

16 years after his death. where they generated no interest whatsoever until 1900. This finding formed the basis of Mendel’s “ law of independent assortment.Gene as a unit of inheritance 4. . A particular gamete.” • Mendel’s experiments were published in the Brunn society’s journal in 1866. could receive a paternal gene governing seed color and a maternal gene governing seed shape.

.Discoveries on the Nature of the Gene • • • • • Discovery of discrete unit of inheritance Discovery of chromosome Discovery of homologous chromosome Discovery of crossing over Discovery that genes could be mapped in order along length of chromosomes • Discovery of DNA as genetic material • Discovery of DNA structure • Human Genome Project.

visible threads in the nucleus of a eucaryotic cell that become visible by light microscope as the cell begins to divide. .Chromosome 1880s Walther Flemming discovered chromosome (“colored bodies”).

linkage group. . or homologous chromosomes (pairs of inheritable factors) uncovered by Mendel (11 pairs chromosomes and 1 sex-determining X chromosome). • And genes on the same chromosome should act as if they are linked to one another. a graduate student at Columbia University.Chromosome • 1903. pointed that the chromosome as the physical carriers of Mendel’s genetic factors. as observed by Mendel’s alleles (genes should be passed from parent to offspring in packages. Walter Sutton. the presence in each cell of pairs of chromosomes. Mendel’s law of independent assortment).

• But as the 1950s began. .Chromosome • Chromosome consists of both deoxyribonucleic acid (DNA) and protein. both how proteins could be specified by instructions in the DNA and how this information might be copied for transmission from cell to cell seemed completely mysterious.

.Discoveries on the Nature of the Gene • • • • • Discovery of discrete unit of inheritance Discovery of chromosome Discovery of homologous chromosome Discovery of crossing over Discovery that genes could be mapped in order along length of chromosomes • Discovery of DNA as genetic material • Discovery of DNA structure • Human Genome Project.

Columbia University (1915) Wild Type Mutant New Era in Genetic Research .Drosophila Melanogaster (Fruit Fly) Thomas Hunt Morgan.

• Easy to house and breed. • Wild type “strain” (normal) the only fly available from the beginning. • The altered trait (mutant). occurs within a gene passed from generation to generation.Genetic Analysis Of Drosophila • The generation time (from egg to sexually mature adult) of about 10 days and can produce up to 1000 eggs in a lifetime. . • Very inexpensive to maintain.

Genetic Analysis Of Drosophila • Crossing over (or genetic recombination) could account for the appearance of offspring (recombinants) having unexpected combinations of genetic traits (Morgan). . • Jansens had proposed that the interaction between maternal and paternal chromosomes resulted in the breakage and exchange of pieces.

Crossing over in Paternal and Maternal Chromosomes Sites of crossing over .

• HJ Muller. • Today. . mutagenesis in Drosophila are most often generated by adding a chemical mutagen (ethyl methane sulfonate) to the animals’s feed. Indiana University – flies subjected to a sublethal dose of X-rays displayed more than 100 times the spontaneous mutation rate exhibited by nonirradiated controls.depends on spontaneous appearance of altered genes.Mutagenesis • Morgan experiment .

Discoveries on the Nature of the Gene • • • • • Discovery of discrete unit of inheritance Discovery of chromosome Discovery of homologous chromosome Discovery of crossing over Discovery that genes could be mapped in order along length of chromosomes • Discovery of DNA as genetic material • Discovery of DNA structure • Human Genome Project. .

DNA as genetic material .

the number of adenines always equaled the number of thymines.Base Composition of DNA • 1950 Erwin Chargaff. delivered the final blow to the tetranucleotide theory and provided vital information about DNA structure. More specifically. • Tetranucleotide theory : the number of purines (Adenine-Guanine) ratio always equaled the number of pyrimidines (Thymine-Cytosine) in a given sample of DNA. and the number of guanines always equaled the number of cytosines . Columbia University.

Base Composition of DNA • Chargaff discovered the following rules of DNA base composition : A = T. G = C. A + T  G + C .

Discoveries on the Nature of the Gene • • • • • Discovery of discrete unit of inheritance Discovery of chromosome Discovery of homologous chromosome Discovery of crossing over Discovery that genes could be mapped in order along length of chromosomes • Discovery of DNA as genetic material • Discovery of DNA structure • Human Genome Project. .

the National Human Genome Reserach Institute announced the successful completion of the Human Genome Project Watson and Crick Time/CBS News People of the Century p. discovered the structure of DNA at Cambridge. 301 . England. Crick announced that “we had found the secret of life. 2003.” ∙ The DNA structure is a “double helix” ∙ April 14.Discovery of DNA Structure ∙ February 28. 1953 Crick and Watson.

DNA and its building blocks • DNA is made from simple subunits. labelled. • The bases are of four types (adenine.G. guanine. and T. and thymine). A. called nucleotides. . corresponding to four distinct nucleotides. attached it. • A single strand of DNA consists of nucleotides joined together by sugar-phosphate linkages. each consisting of a sugar-phosphate molecule with a nitrogen-containing side group. or base. C. cytosine.

the complementary nucleotides on opposite strands are held together more weakly. by hydrogen bonds. . • A normal DNA molecule consists of two such complementary strands.DNA and its building blocks • Through templated polymerization. T in one strand pairs with A in the other. The nucleotides within each strand are linked by strong (covalent) chemical bonds. and G pairs with C. the sequence of nucleotides in an existing DNA strand controls the sequence in which nucleotides are joined together in a new DNA strand.

The DNA Double Helix • The two strands twists around each other to form a double helix – a robust structure that can accommodate any sequence of nucleotides without altering its basic structure. .

DNA and its building blocks .

The DNA Double Helix Double Helix .

Discoveries on the Nature of the Gene • • • • • Discovery of discrete unit of inheritance Discovery of chromosome Discovery of homologous chromosome Discovery of crossing over Discovery that genes could be mapped in order along length of chromosomes • Discovery of DNA as genetic material • Discovery of DNA structure • Human Genome Project .

Genome • The term genome is the complete set of information in an organism’s DNA.2 x 109 nucleotides – is distributed over 24 different chromosomes. • The human genome-approximately 3. • Genome carries the information for all the proteins and RNA molecules that the organism will ever synthesize. . • The term genome is also used to describe the DNA that carries this information.

The Structure of DNA Provides a Mechanism for Heredity .

(gray) . codes for a portion of protein Intron. predicted genes Exon (red). the coding sequence. intervening (noncoding) sequence .The organization of genes on a human chromosome Dark brown = known genes. red.

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2007) ● The first complete (six-billion-letter) genome of an individual human ● Founder The Institute of Genomic Research .Venter's own DNA sequence (September 4.

A New Reprogramming Technology in Stem Cell .

Garland Science. ed. Revolusi Sel Punca Kedokteran Kardiovaskuler. 2011 • Alberts B.References • Profesor Hadyanto Lim. • Profesor Hadyanto Lim. October 2010. vol 2. 5th ed. Molecular Biology of the Cell. 2008. PT Sofmedia. Revolusi Stem Cell Therapy Penyakit Kardiovaskuler. PT Sofmedia. vol 1. .