Glossary
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
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
Central dogma
A description of the flow of genetic information: DNA is transcribed to RNA which is then translated to pro
Centromere
Chromatin
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
Cis
Constitutitive heterochromatin
Heterochromatin that is the same in all cell types, eg. centromere, telomere.
CpG island
Differentially Methylated
A region of DNA that controls the expression of imprinted genes. Also known as an Imprint Control Region
Domain (DMD)
(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
DNA methylation
Dosage compensation
The process by which somatic cells of males and females express the same levels of X-linked genes.
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
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
Gastrulation
The process in development when an embryo transforms from a hollow ball of cells to a two-layered, cup-s
Gene
Genomic imprinting
The process by which genes can show monoallelic expression based on the parent-of-origin of the allele.
Germ cell
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
Histone
A positively charged protein that binds to DNA to form a nucleosome, the smallest unit of chromatin.
Histone modifications
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.
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.
An embryonic stem cell-like pluripotent cell produced from a somatic cell via somatic cell reprogramming.
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
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.
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
Nuclear pore
A hole in the nuclear membrane allowing transport between the nucleus and the cytoplasm.
Nucleolus
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.
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.
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
Pseudoautosomal region
A region of a sex chromosome that is homologous between the X and the Y chromosome.
Recombination
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
RNA polymerase
rRNA
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
SnoRNA
Small nucleolar RNAs: RNA molecules that guide chemical modifications of other RNAs.
Somatic cell
Telomere
Totipotent cell
A cell that has the potential to differentiate into all the cell types of an organism.
Trans
Transcription
Transcription factor
Transcription factory
A subcompartment of the nucleus where there is a concentration of transcription machinery and active transcription
Transgene
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
Translocation
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.
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.
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