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Structure and Function of Gene (part I)

By Dr. Estri Laras Arumingtyas Fatchiyah, PhD Irfan Mustafa,SSi.MSi

Gregor Mendel

One of the pioneers in genetics Used scientific approach to understand genetic features: Character: Character: is a heritable feature like flower color Trait: Traits: Each variant for a character Gregor Mendel in 1857 started to experiment with: Pea Plants


Dominant traits

Recessive traits

1857 Experiment

To explain his results, Mendel formulated a hypothesis that included the following:
1. In the organism there is a pair of factors that controls the appearance of a given characteristic. (We call them genes.) 2. The organism inherits these factors from its parents, one from each. 3. Each is transmitted from generation to generation as a discrete, unchanging unit. (The wrinkled seeds in the F2 generation were no less wrinkled than those in the P generation although they had passed through the round-seeded F1 generation.) 4. When the gametes are formed, the factors separate and are distributed as units to each gamete. This statement is often called Mendel's rule of segregation. 5. If an organism has two unlike factors (we call them alleles) for a characteristic, one may be expressed to the total exclusion of the other (dominant vs recessive).

Mendels principle of Segregation

Pairs of alleles segregate (separate) during gamete formation; the fusion of gametes at fertilization creates allele pairs again

Ex: Tt organism Each gamete gets either T or t, but not both

Mendel did not stop here

He went on to cross pea varieties that differed in six other qualitative traits. In every case, the results supported his hypothesis. He crossed peas that differed in two traits. He found that the inheritance of one trait was independent of that of the other and so framed his second rule: the rule of independent assortment.

Mendels principle of Independent Assortment

By then doing an F1 cross (RrYy x RrYy) Mendel showed that the allele for yellow (Y) didnt always end up in the same gamete with the allele for round (R) Genes for different traits can segregate independently during the formation of gametes

Animal Inheritance

Human Inheritance

Mendels Model

Alternative versions of genes account for variation in inherited characters Alleles are alternative versions Chromosome Gene Locus For each character, an individual inherits 2 alleles (P1 and P2): Two alleles being different have dominant or recessive alleles Dominant allele is expressed

Structure and Function of Gene (part II)

By Estri Laras Arumingtyas Fatchiyah Irfan Mustafa

What is Inheritance?

Passing on genetic information from parents to offspring Humans have 23 pairs of chromosomes (46 total)
1 of each pair is from one parent and the other is from the other parent


Chromosomes, threadlike structures, first observed by Nageli in 1842. Long strands of DNA that carry the genetic information on building and sustaining a living human being. Each chromosome contains many genes

What is a Gene?

A segment of a chromosome that containing the code for a single protein (enzyme)
- The enzyme causes a chemical reaction that allows a trait to be expressed. ie. Production of a pigment

Something that stated by Mendel as factor

Round vs Wrinkled

Dominant allele round codes for enzyme that converts sugar starch Recessive allele have defective enzyme
Sugar accumulates Water diffuses in the seed Seeds swell Mature seed when dried becomes wrinkled One dominant allele produces enough enzyme Both homozygous dominants and heterozygotes produce enough enzyme


Alleles are alternate forms of a gene

Homozygous individuals have two identical alleles for a trait ex.: AA or aa organism Heterozygous individuals have two different alleles for a trait ex.: Aa organism

Cell, chromosome and gene (DNA)

The body contains trillions of cells chromatin

Nucleus (center of cell) contains chromosomes and genes Chromosomes are threadlike structures composed of DNA molecules

A gene, a segment of DNA (spiraled double chain) containing the hereditary code

The Structure of Chromosome

Nucleotides --> DNA --> Gene --> Chromosome Human DNA is ~ 2 meters long. The nucleus of DNA is about 6 M in diameter.

So, how the very long DNA is packed into a very small nucleus?

Chromosome Structure

fatchiyah, fatchiyah, JB UB

Type of chromosome structure

1. The short arm is designated as p and the long arm as q. 2. The centromere is the location of spindle attachment and is an integral part of the chromosome. 3. It is essential for the normal movement and segregation of chromosomes during cell division.

Metacentric Submetacentric Acrocentric Chrom. 1 Chrom. 9 Chrom. 14 The ideogram is basically a "chromosome map" showing the relationship between the short and long arms, centromere (cen). The specific banding patterns are also illustrated. Each band is numbered to aid in describing rearrangements.

What molecule transmitting genetic inheritance from parents to offspring ?

(Deoxyribose Nucleic Acid)


DNA: terminology



nucleoside base

phosphate(s) sugar

nucleotides (nucleoside mono-, di-, and triphosphates)

DNA: structure
1. 2. 3. 4. 5. 6. 7. 8. DNA is double stranded DNA strands are antiparallel G-C pairs have 3 hydrogen bonds A-T pairs have 2 hydrogen bonds One strand is the complement of the other Major and minor grooves present different surfaces Almost all cellular DNA is B-DNA B-DNA has ~10.5 bp/turn of the helix

Gene expression in eucaryotes and procaryotes

Molecular Definition of Gene

The entire nucleic acid sequence that is necessary for the synthesis of a functional protein and RNA Coding region (exon and intron) + Regulatory sequences (e.g. promoter=the site where RNA polymerase binds prior to the initiation of transcription)

Basic Gene Structures

Eukaryotic genes
Exons,introns, translation starts and stops, splice (donor/acceptor) junctions

Basic Gene Structure

Prokaryotic genes
coding regions, non-coding regions translation starts and stops
promoter gene gene gene



Prokaryotic genes are easier to identify than eukaryotic genes because of the simplicity of their gene structure and the density of genes in the genome