Glossary

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Adenosine Triphosphate (ATP)

A compound that carries energy in a cell. Hydrolysing the phosphate bond in ATP releases energy that can drive ce

Allele

Alternative version of a gene.

Autosome

A chromosome that is not involved in sex determination. Diploid human cells have 44 autosomes.

Barr body

Densly staining mass of inactive X chromosome at the nuclear periphery of female but not male interphase

Bisulfite sequencing

A technique used to differentiate C from meC involving the bisulfite chemical conversion of DNA followed by amplifi

Blastocyst

An early stage of embryo development prior to implantation, consisting of an outer trophoblast layer, an in

Boundary element

An element in DNA that limits the spreading of heterochromatin.

Central dogma

A description of the flow of genetic information: DNA is transcribed to RNA which is then translated to pro

Centromere

The central region in a chromosome.

Chromatin

A complex of DNA and protein found in the nucleus of a cell.

Chromatin remodeller

Proteins that use the energy from ATP to move nucleosomes, bringing about changes in chromatin compaction.

Chromosome

An organised structure of DNA and protein found in the nucleus of a cell. Diploid human cells have 46 chro
sex chromosomes.

Chromosome territory

The subcompartment in the nucleus where a particular chromosome resides.

Cis

Acting on the same molecule of DNA

Constitutitive heterochromatin

Heterochromatin that is the same in all cell types, eg. centromere, telomere.

CpG island

Clusters of CpG dinucleotides often found at promoters of genes.

CpG island shore

CpG dinucleotides situated a short distance away from CpG islands.

Differentially Methylated

A region of DNA that controls the expression of imprinted genes. Also known as an Imprint Control Region

Domain (DMD)

(DMR).

Differentially Methylated Region

(DMR)

A region of DNA that controls the expression of imprinted genes. Also known as an Imprint Control Region (ICR) o

Differentiation

The process by which cells acquire specialised structures and functions during development.

Diploid

Containing two sets of chromosomes (2n); one set is inherited from the mother, the other set from the father.

Distal

Situated far away in the DNA.

DNA methylation

Methylation of the 5' group of cytosines within CpG dinucleotides.

Dosage compensation

The process by which somatic cells of males and females express the same levels of X-linked genes.

Embryonic stem cell

Cells derived from the inner cell mass of a blastocyst. Embryonic stem cells are pluripotent, i.e. they have the poten
cell types.

Epiblast

The layer of an early embryo that will give rise to the embryo-proper (rather than the extra-embryonic mem

Epigenetic reprogramming

The erasure and remodeling of epigenetic marks, eg. in germ cells and during early development of an embryo.

Epigenetics

The study of mitotically heritable changes in gene expression that occur without changes in DNA sequenc

Epimutation

A heritable change in gene expression that is not accompanied by a change in DNA sequence.

Euchromatin

An open form of chromatin that is highly accessible to proteins involved in DNA replication and transcripti

Expressivity

The degree to which individuals carrying a particular genotype display the corresponding phenotype.

Facultative heterochromatin

Heterochromatin that can differ by cell type.

Fertilisation

Joining of two haploid genomes to form a diploid zygote. In humans, this occurs when the male gamete (sperm) fu

Fluorescence in situ

A technique in which a fluorescent probe binds to its complementary sequence in the genome. Fluorescen

hybridization (FISH)

probe on chromosomes.

Fluorophore

A chemical compound that emits fluorescent light upon excitation.

Gastrulation

The process in development when an embryo transforms from a hollow ball of cells to a two-layered, cup-s

Gene

A specific sequence of DNA that codes for a protein.

Genomic imprinting

The process by which genes can show monoallelic expression based on the parent-of-origin of the allele.

Germ cell

A haploid cell, e.g. egg or sperm.

Haploid

Containing only one set of chromosomes (1n). Germ cells are haploid.

Haplotype

A group of alleles that are located closely together on the same chromosome.

Heterochromatin

A tightly packaged form of chromatin that is poorly accessible to proteins involved in DNA replication and

Heterozygous

A diploid organism with two different alleles for a given gene.

Histone

A positively charged protein that binds to DNA to form a nucleosome, the smallest unit of chromatin.

Histone modifications

Post-translational modifications of the N-terminal tails of histones.

Histone variant

Histones with varying stabilities or specialist domains that alter the function of the nucleosome.

Homologous chromosomes

A pair of chromosomes that bear the same genes. One chromosome is inherited from the father, the other from the

Homozygous

A diploid organism with two copies of the same allele for a given gene.

Identical twins

Twins that are genetically identical as they arise when one embryo splits into two during early development.

Imprint Control Region (ICR)

A region of DNA that controls the expression of imprinted genes. Also known as a Differentially Methylated
Methylated Region (DMR).

Imprinted gene

A gene that shows monallelic expression based on the parent-of-origin of the allele.

Induced Pluripotent (iPS) cell

An embryonic stem cell-like pluripotent cell produced from a somatic cell via somatic cell reprogramming.

Inner cell mass

The mass of cells inside the blastocyst that will give rise to the embryo proper. Cells of the ICM are pluripotent, and

Insulator

A boundary element that prevents the interaction between an enhancer and a promoter.

Interphase

The period of the cell cycle when the cell is not undergoing division.

Karyotype

The number and appearance of chromosomes in the nucleus of a eukaryotic cell.

lncRNA

Long non-coding RNA: long (>200 nt) RNAs that are not translated into proteins, and are largely constrained to the

Meiosis

The process of cell division that generates haploid cells from diploid cells. Meiosis occurs in two stages to
the resulting germ cells.

Metaphase

A phase of mitosis when the replicated chromosomes are aligned in the centre of the nucleus prior to distribution a

Metastable epiallele

An alelle that shows variable expression in genetically identical individuals due to epigenetic modification

miRNA

Micro RNA: RNA that leads to post-transcriptional gene silencing through mRNA cleavage or repression of translat

Mitosis

The process of cell division. During mitosis the chromosomes are replicated before being equally distribut
conserving chromosome number.

Monoallelic gene expression

Expression of only one allele in a diploid cell.

Morula

An early stage of embryo development consisting of a solid mass of cells with a mulberry appearance.

mRNA

Messenger RNA: RNA that codes for a protein. The information in mRNA is used to produce a polypeptide during t

Nuclear lamina

A structure on the inner nuclear membrane composed of lamin proteins.

Nuclear pore

A hole in the nuclear membrane allowing transport between the nucleus and the cytoplasm.

Nucleolus

The subcompartment of the nucleus where ribosomes are synthesised.

Nucleosome

The basic unit of chromatin, consisting of 146 bp of DNA wrapped around a histone octamer (2 x H2A, 2 x H2B, 2

Oncogene

A gene that promotes cancer, e.g. through promoting survival and proliferation.

piRNA

Piwi-interacting RNA: RNA involved in silencing transposable elements in the germ line and in stem cell population

Paramutation

An epigenetic phenomenon in which one allele at a locus induces a heritable change in the other allele at t

Penetrance

The proportion of individuals carrying a particular genotype who display the corresponding phenotype.

Placenta

An organ that connects the developing fetus to the wall of the uterus, enabling uptake of nutrients, elimina

Pluripotent cell

A cell that has the potential to differentiate into several types of mature cells.

Position Effect Variegation

(PEV)
Post translational modification

Variegation that results when heterochromatin spreads into adjacent genes, silencing their expression.

Modification of a protein after it has been synthesised by translation; modifications include but aren't limit
phosphorylation and ubiquitination.

Primordial germ cell

Cells that will later give rise to the germ cells, oocytes and spermatozoa. These cells are pluripotent.

Promoter

Regulatory region at the start of genes, where the transcription machinery binds.

Protamine

Proteins that replace histones in the chromatin during the late stages of spermatogenesis.

Proximal

Situated nearby in the DNA.

Pseudoautosomal region

A region of a sex chromosome that is homologous between the X and the Y chromosome.

Recombination

Exchange of genetic material between chromosomes.

Repetitive element

Nucleotide sequences found in multiple copies in the genome. The repeated sequence may be short and found tog
through the genome. Repetitive elements are usually non-coding.

Replication timing

Temporal segregation of replication for euchromatin or heterochromatin.

RNA polymerase

The enzyme that catalyses the synthesis of RNA during transcription.

rRNA

Ribosomal RNA: RNA that forms the structure of ribosomes.

Sex chromosomes
Single Nucleotide
Polymorphism (SNP)

The chromosomes responsible for sex determination. In humans, females have two X chromosomes while males h
chromosome.
A common type of genetic variation consisting of differences at a single nucleotide position.

Skewed X inactivation

A preference to inactivate one X chromosome over the other.

SnoRNA

Small nucleolar RNAs: RNA molecules that guide chemical modifications of other RNAs.

Somatic cell

Any cell in a multicellular organism apart from the germ cells.

Telomere

Repetitive DNA at the ends of chromosomes that performs a protective function.

Totipotent cell

A cell that has the potential to differentiate into all the cell types of an organism.

Trans

Acting on a different molecule of DNA.

Transcription

Synthesis of RNA from a DNA template.

Transcription factor

A protein that binds to regulatory sequences in a gene and promotes transcription.

Transcription factory

A subcompartment of the nucleus where there is a concentration of transcription machinery and active transcription

Transgene

A gene transferred from one organism to another.

Transgenerational epigenetic

The epigenotype of the parent influences the epigenotype observed in the offspring, and cannot be attributed to cis

inheritance

is that this is due to a failure to clear some epigenetic marks during gametogenesis and early embryogenesis.

Translation

Synthesis of a polypeptide using the instructions in mRNA.

Translocation

An aberration in DNA due to the attachment of a chromosome fragment to a non-homologous chromosome.

Transmission ratio distortion

Deviation from the expected Mendelian proportions of each genotype.

Transposon

An element in DNA that can move around the genome leading to genetic instability.

tRNA

Transfer RNA: RNA that brings an amino acid to the appropriate codon in mRNA during translation.

Trophectoderm

The cells forming the outer layer of the blastocyst; these cells give rise to the placenta.

Tumour suppressor gene

A gene that acts to prevent cancer, e.g. through inhibiting survival and proliferation.

Uniparental disomy
Variegation
X chromosome controlling
element (XCE)

Receiving two copies of a chromosome (or part of a chromosome) from one parent and no copies from the other p
two maternal copies) or paternal (receiving two paternal copies).

Mosaic expression of a gene among cells of the same type, for example the variegated coat colour observe

A region near the XIC that influences X inactivation choice. Genetic differences in the XCE result in skewed X inact

X chromosome inactivation

The process by which one X chromosome is inactivated during early development of female embryos.

X inactivation Centre (XIC)

A region of the X chromosome (including the Xist gene) that regulates X inactivation. The XIC is necessary and su

Zygote

The diploid cell formed by union of two haploid cells; in humans, the product when a sperm fertilises an eg