1 CYTOGENETICS GENES AND CHROMOSOMES 02/22/2021

Gene Gene expression

 The process in which the information within a gene

is accessed, first to synthesize RNA and usually
proteins, and eventually to affect the phenotype of
the organism
 Phenotypic manifestation of the gene. Have 2
 A unit of heredity that may influence the outcome of
major step transcription and translation
an organism’s traits
 At the molecular level, a gene contains the
information to make a functional product, either
RNA or protein
 Gene can only code for a specific trait
 Not all genes are capable of coding protein.
 In humans, genes vary in size of 100 DNA bases to
more than 200 million bases
o Human Genome Project
 determine the sequence of the  DNA contains all of the information needed for
human genome and identify the making you
genes that it contains  Dolly the sheep came from a single mammary cell
 20,000 – 200,000 genes  The information is stored in the over 20,000 human
 Chromosome are made up of DNA; the segment of genes found in almost all your cell
it are the genes which code a protein  Differentiate cells in a multicellular organism may
express very different sets of genes, even though
the contain the same DNA

Gene regulation

 Is the process of controlling which genes in a cell’s

DNA are expressed (used to make a functional
product such as a protein)
 Many genes are regulated primarily in the level of
transcription
 DNA is wound around positively charged proteins
called histones

Terms

 Chromatin
o Coiled DNA strands to basic proteins called
histones
o Present in metabolically active cells (only
present in the interphase)
 Chromosome
o Chromatin that has undergone further
condensation  So, before the transcription process, a regulator
gene will bind to the promoted sequence. When
Chromosome Chromatin
Tightly packaged DNA Unwound DNA RNA polymerase will sense a transcription factor
Found only during cell Found throughout it will bind to the promoter sequence. If it is a
division interphase suppressor, then transcription will not occur.
DNA is not being used for DNA is being used for  Cell’s gene expression pattern is determined by
macromolecule synthesis macromolecule synthesis information from both inside and outside the cell
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Inside the cell:
 Protein it inherited from its mother cell, whether its
DNA is damaged and how much ATP it has
Outside the cell
 Chemical signals from other cells, mechanical
signals from the extracellular matrix, and nutrient
levels.
Transcription Factors
 Growth factor (considered a signal or promoter of
gene expression) will bind to the receptor of the cell
and then it will try to promote/activate the
transcription factor and the transcription process
will begin.
Eukaryotic gene expression can be regulated at many
stages
GENES AND CHROMOSOMES 02/22/2021
 Chromatin accessibility
o More open or relax chromatin makes the
gene available for transcription.
 Transcription
o Where most gene expression regulation
occur
 RNA processing
o Primary transcript is the direct product of
DNA transcription should undergo first RNA
processing/maturation before it goes out in
the nucleus and be transported to the
cytoplasm (ribosome)
o Splicing > RNA capping (5’ cap) > Addition
of poly-A-tail
o
 RNA stability
o Lifetime of RNA in the cytosol affects how
many proteins can be made from it
o miRNA can bind to target mRNA cause
them to be chopped up
o Not all RNA that undergoes RNA
processing can go directly to ribosome for
translation
 Translation
o Increase or inhibited by regulators.
o miRNA sometimes block translation of their
target RNA rather than causing them to be
chopped up
 Protein activity
o Proteins can undergo a variety of
modifications (chopped up or tagged by
chemical groups). Which can be regulated
and can affect the behavior of proteins
 Proteins that regulate the transcription of genes-
that is, their copying into RNA, on the way to
making a protein
o Activators
 Activates transcription
 The activator will bind to the
promoter sequence. The activator
helps the general transcription
factors and RNA polymerase
assemble. Thus, transcription will
happen on the target gene
o Repressors
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 To inhibit
 No binding of transcription factors,
no RNA polymerase binding.
Types of Heterochromatin
Therefore, no transcription on the
target gene.  Marginal chromatin
o Is found in the periphery of the nucleus
Gene expression
 Karyosome
 Eye, genes are turned on for seeing and the o Discrete bodies of chromatin irregular in
breathing genes are off size and shape found throughout the
 In lung cells, the situations is reversed. nucleus
 Nucleolar-associated chromatin
Gene regulation and differences between species o Found in association of the nucleus
 Humans and chimpanzees have genomes about Sex Chromatin
more than 95%-98.8% identical at the DNA level
 The protein coding of genes are different
contributing to the differences among species

Chromatin

 In females (XX), on X chromosome remains tightly

coiled and visible while the other one is uncoiled
 In males (XY), the X chromosome is uncoiled

Barr body

 Is a less coiled, packaged chromosome and

present only in the interphase of the cell
 2 types
o Heterochromatin
 Dense clumps under light
microscope
 Tightly coiled around histones
 Not used by the cell
o Euchromatin
 Less coiled portion of the
chromosomes, finely granular
material electron microscope and
lightly stained basophilic areas

 Difference in gender is found in the nucleus of the

nucleated cell.
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 A sign that represents that a particular individual is

a female.
 To confirm whether you are a female or not

Number of Chromosomes in cells

 In somatic cells of humans, the number 46

(karyotype/number), which is referred to as the
diploid number
 The germ cells have 23, the haploid number

 The first 22 pair of chromosomes are called

autosomes
 The last pair of chromosomes is called sex
chromosomes (XX and XY)

Normal Chromosome Number

 Male
o 44 (autosome), XY (sex chromosome)
 Female
o 44 (autosome), XX (sex chromosome)

Karyotype

 A photographic representation of all the

chromosome within a cell. 23pairs of chromosome  Pair of similar chromosomes is called Homologous
chromosomes
 Similar because they encode from the same genes
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 The first 22 pairs of chromosomes are made of Morphologic types of chromosomes

identical partners (Homomorphic chromosome
pairs)
 23rd pair (heteromorphic pairs)

Chromosomes Nomenclature

 Metacentric
o If centromere is in the middle, and the arms
are about of equal length
 Submetacentric
o If the centromere is between the midpoint
and one end
 Acrocentric
o If its near the end
 Telocentric
o If its in the end

 Take note that they occur in pair, one from the

father while the other is from the mother
 A sperm and an egg forms 1 human being. 23 each

Parts and structure of a chromosome

Classifications

 Metacentric
o 1,3,16,9,20
 Submetacentric
o Chr 2 then 4 to 12, 17,18 and X
 Acrocentric
 Chromosome consists of 2 parallel strands called
o 13,14,15,21,22 and Y
chromatids
o Joined together at the centromere (which
divides the chromosome into 2 section
o Kinetochore = portion of the centromere
where the mitotic spindle will attach to
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Telomere

 Structure found at the end of the chromosomes

 Protects the chromosome during cell division from
deterioration
 Shortens every cell division
 Longer telomere = More capable of cell division