Glossary

Causes of Human Disease: Exploring cancer and genetic disease

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A
ABC transporter

• A family of transporter proteins that move various substrates across cellular membranes.

Acetaldehyde

• A metabolic by-product of alcohol that is mutagenic.

Actin

• A family of globular proteins that form microfilaments in cells.

Adenine

• One of the four bases that make up DNA.

Amino acid

• Molecule which is the building block of proteins.

Aneuploidy

• Any change in chromosome number or complement.

Apoptosis

• Technical term for programmed cell death.

Ataxia-telangiectasia

• A rare, neurodegenerative, autosomal recessive disease.

Autosome

• Chromosome that is not a sex chromosome.

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B
Bases

• The chemical molecules that are the building blocks of nucleic acids.

Benign

• Not harmful in effect.

Benzopyrene

• A chemical carcinogen formed when organic material is burned.

BPDE

• The reactive metabolite formed in the body from benzopyrene.

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C
Carcinogenic

• Able to cause cancer.

Carcinogenesis

• The process of cancer formation.

Cell

• The smallest structural and functional unit of an organism.

Cell cycle

• The cycle of growth and replication by which cells proliferate.

Cell cycle regulator

• Protein involved in controlling the cell cycle.

Centromere

• The part of a chromosome that links the sister chromatids.

Chlorambucil

• A chemical used in cancer chemotherapy.

Chromosome

• Thread-like structure in a nucleus containing the genetic material.

Cirrhosis

• Permanent scarring of the liver.

Codon

• The three base triplet that codes for an amino acid.

Complete carcinogen

• Human carcinogen that can act as both initiating and promoting agent.

Crossover

• The exchange of genetic material between homologous chromosomes that occurs during
mitosis and C29 meiosis.

Cyclophosphamide

• A chemical used in cancer chemotherapy.

Cystic fibrosis

• A genetic disease caused by a mutation in a single gene.

Cytoplasm

• The material inside a cell, excluding the nucleus.

Cytosine

• One of the four bases that make up DNA.

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D
Deamination

• The loss of an amine group from a molecule, such as cytosine.

Deleterious

• Causing a harmful effect.

Deoxyribonucleic acid

• DNA, the molecule that contains the genetic material in a cell.

Deoxyribose

• The sugar molecule that forms part of DNA.

Dimerisation

• Two molecules joining together.

Diploid

• Having two sets of chromosomes. In a human cell the diploid number is 46.

DNA

• The abbreviation of deoxyribonucleic acid.

Down syndrome

• The most common condition in humans resulting from aneuploidy. Caused by an extra
chromosome 21.

Duchenne muscular dystrophy

• An X-linked genetic disease that causes muscle wasting due to a mutant gene that codes for a
critical protein in muscle fibres.

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E
Endogenous

• From within the body.

Enzyme

• Protein that catalyses chemical reactions in the body.

Estrogen

• The primary female sex hormone.

Ethanol

• The chemical name for alcohol.

Etoposide

• A drug used in cancer chemotherapy.

Exogenous

• Originating outside the body.

Exons

• The sections of genes that code for proteins.

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F
Filament

• Thread like structure in cell.

Frameshift

• A type of mutation that alters the reading frame of a gene so that all amino acids are incorrectly
coded.

Free radical

• Reactive molecule with an unpaired number of electrons that can damage other molecules such
as DNA and proteins.

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G
G1

• The first of four phases in the cell cycle during which the cell synthesizes molecules needed for
replication.
G2

• The phase in the cell cycle after DNA has been replicated, involving rapid cell growth.

Gamete

• Sex cell (ie sperm and ova in humans).

Gene

• The unit of genetic information that codes for a protein or RNA molecule.

Genetics

• The study of inheritance.

Genome

• All of the genetic material in an organism.

Genotoxic/genotoxin

• Something that damages DNA.

Genotype

• The genetic complement of a cell or organism.

Germ line
• The sex cells.

Guanine

• One of the four bases that make up DNA.

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H
Haploid

• Having half the usual number of chromosomes. Gametes are haploid.

HCV

• Hepatitis C virus.
Helicobacter pylori

• A species of bacterium that grows in the gut, which can cause ulcers and is associated with
stomach cancer.

Helix

• A three dimensional structure in the shape of a wire wrapped around around a cylinder.

Hemizygous

• A chromosome or gene in an organism is hemizygous when only one copy is present.

Heterozygous

• A chromosome or gene is heterozygous when two different copies are present.

Histones

• The structural proteins in a chromosome around which the DNA is tightly wound.

Homologous

• Matching, as in a pair of chromosomes (one from each parent) carrying the same genes.

Homozygous

• Both parental copies of a gene are identical.

Housekeeping protein

• A protein expressed in all cells that carry out vital functions.

Huntington’s disease

• A rare, late onset, inherited neurodegenerative disease.

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I
Initiating agents

• Carcinogens that are efficient at inducing DNA damage.

Intronic

• To do with introns.
Introns

• The non-coding parts of genes that lie between the exons.

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K
K-ras

• An oncogene.

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M
Macromolecule

• A complex molecule composed of many atoms eg a protein.

Malignant

• Very harmful.

M-phase

• The part of the cell cycle during which mitosis occurs.

Meiosis

• The division of cells into haploid gametes.

Mendelian

• Pattern of inheritance of genes following the rules described by Mendel.

Mesothelioma

• A particularly aggressive cancer of the lung cavity.

Methionine

• The most common first amino acid in a protein, coded by the ATG start codon.

Methyl

• A CH3 group.
Mismatch

• Two opposite bases in a DNA molecule that are not the normal A-T or G-C base pairs.

Mitosis

• The period in the cell cycle when a cell divides into two new cells.

Monosomy

• The presence of only one copy of a chromosome.

Mosaicism

• A mixture of cells within an organism with different genotypes.

mRNA

• Messenger RNA. The molecule that is formed when DNA is transcribed and is subsequently
translated into a protein.

Mutation

• A heritable change in a DNA sequence.

Myosin

• A molecule that acts as a type of cellular motor, working with actin to cause movement.

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N
Neoplasia

• From the Greek for ‘new growth’.

Nucleotide

• Molecule consisting of a base with a sugar and phosphate group added. A building block of
DNA.

Nucleus

• The membrane bound compartment in a cell that contains the genetic material.

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O
Oncogene

• Gene in their mutationally activated form that contribute to one or more cancer hallmarks.

Organelle

• Membrane bound compartment within a cell.

Organism

• A living entity.

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P
Phosphate

• A chemical containing phosphorus combined with oxygen atoms.

Poly(A) sequence

• A tail of adenines added to the end of mRNA.

Polycyclic aromatic hydrocarbons (PAHs)

• These are carcinogenic chemicals that are generated whenever organic material is overheated,
such as grilled meat or burnt toast.

Polymerase

• An enzyme that adds repeating units together, such as nucleotides in DNA.

Polymorphism

• A mutation that occurs in at least 1% of the population.

Promoting agent

• Carcinogen that is effective at stimulating cell proliferation, either directly or indirectly.

Proofreading

• Checking that the correct base has been inserted during DNA replication.
Protein

• Molecule made up of chains of amino acids, which performs a structural or functional role in a
cell.

Proto-oncogene

• Non-mutated form of oncogene.

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Q
Quiescence

• A period during which a cell is not growing or dividing.

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R
Reading frame

• Groups of three consecutive bases in a sequence of DNA that make up the codons for the amino
acids encoded by the gene.

Receptor

• A molecule (usually a protein) that binds to another molecule to receive a signal.

Retinoblastoma

• A rare form of childhood cancer of the eye.

Ribosome

• Structure in a cell in which proteins are synthesised.

RNA

• Ribonucleic acid – similar to DNA but containing uracil instead of thymine.

rRNA

• Ribosomal RNA, which forms part of the structure of the ribosome.

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S
S-phase

• The phase of the cell cycle during which DNA synthesis takes place.

Sickle-cell disease

• A genetic disease caused by a mutation in the haemoglobin gene that leads to red blood cells
sticking together.

Sister chromatids

• The two identical parts of a replicated chromosome, which are still joined together at the
centromere.

SNP

• A single nucleotide polymorphism, which is a mutation of one nucleotide in a gene that is

present in at least 1% of the population.

Spliceosome

• Structure that removes intronic sequences from RNA transcripts.

Strand

• A single thread of nucleotides, as in DNA (2 strands) or RNA (1 strand).

Substrate

• Material acted on by an enzyme.

Synapsis

• The fusion of chromosome pairs at the start of meiosis.

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T
Template strand

• The strand of DNA that codes for a newly synthesised DNA strand (during replication) or RNA
strand (during transcription).
Testosterone

• The primary male hormone.

Thymine

• One of the four bases found in DNA. Not present in RNA.

Transcription factor

• A protein that stimulates the initiation of transcription.

Transferase

• A protein that can transfer chemical groups from one type of molecule to another.

Translocation

• The relocation of a fragment of one chromosome onto another chromosome.

Trisomy

• The presence of three copies of one particular chromosome.

tRNA

• A specialist RNA molecule that deposits a specific amino acid at the correct site in a growing
protein chain.

Tumour

• Comes from the Latin for ‘swelling’.

Turner syndrome

• A genetic condition in which a female is missing an X chromosome.

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U
Uracil

• A nucleotide base present in RNA in place of thymine.

UV light

• Ultraviolet light – a wavelength of light contained within sunlight that can damage DNA.
Z
Zygote

• A fertilized egg cell.

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