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. later termed genes. . Alternate forms of a gene are called alleles. one derived from each parent. The characteristics of the plants were governed by distinct factors (or units) of inheritance.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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This finding formed the basis of Mendel’s “law of segregation. One of the alleles that governed each trait in a plant was inherited from female parent. 3. and the other allele was inherited from the male parent. The pair of alleles that governed a trait remained together throughout the life of an individual plant.Gene as a unit of inheritance 2.” . but they become separated (or segregated) from one another during the formation of the gametes.

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

.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.

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

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

• 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.

• Very inexpensive to maintain.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. • The altered trait (mutant). . occurs within a gene passed from generation to generation. • Easy to house and breed. • Wild type “strain” (normal) the only fly available from the beginning.

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

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 .

Columbia University. • 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 . More specifically. delivered the final blow to the tetranucleotide theory and provided vital information about DNA structure. the number of adenines always equaled the number of thymines.Base Composition of DNA • 1950 Erwin Chargaff.

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

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. .

discovered the structure of DNA at Cambridge. 301 . Crick announced that “we had found the secret of life. 2003. England. 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.Discovery of DNA Structure ∙ February 28. 1953 Crick and Watson.” ∙ The DNA structure is a “double helix” ∙ April 14.

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

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

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

The Structure of DNA Provides a Mechanism for Heredity .

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

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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 .

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

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