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Map antibody genes:
The large and diverse population of antibodies is generated by random
combinations of a set of gene
segments that encode different antigen binding sites (or paratopes),
followed by random mutations
in this area of the antibody gene, which create further diversity.[7][8]
Antibody
genes also re-organize in a process called class
switching
that changes the base of the heavy chain to another, creating a different
isotype of the antibody that retains the antigen specific variable
region. Wikipedia Antibodies accessed Feb 14 2011 http://en.wikipedia.org/wiki/Antibody
In 1989, we set out to map and sequence all the human antibody genes. Over a 10 year period,
16 scientists at the MRC Laboratory of Molecular Biology and the MRC Centre for Protein
Engineering were involved in the work which resulted in the first publication of the complete
maps of the human heavy chain and lambda light chain genes and the compilation of the V
BASE database. Our results demonstrated that there are far fewer functional genes than
originally anticipated ... by analysing the use of individual antibody genes and the extent of somatic mutation we went on to show
that the pattern and extent of diversity introduced by somatic hypermutation is complementary
to that created by combinatorial rearrangement. Finally, many of the germline genes cloned
during the mapping and sequencing work were used as building blocks in the creation of a
number of semi- synthetic phage- antibody libraries and, more recently, we have used the
analysis of main- chain conformations and side- chain diversity in the human immune system to
generate a range of new 'superantibody' libraries. Laboratory of Molecular
Biology, Medical Research Council, UK "Human Antibody Genes"
c2000 http://www2.mrc-lmb.cam.ac.uk/groups/arrays/genes.html
assembled genes: See under immunoglobulin genes
candidate genes: Candidate
genes for genetic studies are selected on the basis of: their location in the
genome (if linkage data are available); prior knowledge of similar (related)
diseases; knowledge of disease pathogenesis; or knowledge of the gene and its
function. Aside from linkage based candidates, all of these involve a degree of
speculation. One means of increasing the chance of success is to consider
findings from other similar diseases or syndromes.
P T Donaldson, Genetics of liver
disease: immunogenetics and disease pathogenesis, Gut.
2004
April; 53(4):
599–608 doi:
10.1136/gut.2003.031732. Focus on particular SNPs thought to
have a functional effect. Within family studies SNPs spanning several
generations can show relationships between a disease and a candidate gene
or a chromosomal region. Focuses on particular coding regions of
the genome. Involves less sequencing overall and is more likely to
uncover SNPs that, in addition to serving as markers, have functional implications
and thus may shed light on biochemical mechanisms.
caretaker genes; See under tumor suppressor genes
chimeric gene: A semi-synthetic gene, consisting of
the coding sequence from one organism, fused to promoter and other sequences
derived from a different gene. Most genes used in transformation are chimeric.
See carrier DNA; binary vector; plasmid; transformation; vector. constitutive genes:
The widely accepted view is that genes fall into one of two
basic categories: those that express themselves at a steady rate, regardless of
environmental conditions (i.e., constitutive genes), and those that are subject
to regulation (i.e., inducible genes). Massoud Stephane, Genetic and
Environmental Interactions in Psychiatric Illnesses [letter], J Neuropsychiatry
Clin Neurosci 15:386-387, August 2003 http://neuro.psychiatryonline.org/cgi/content/full/15/3/386
Related term: housekeeping genes
developmental genes:
Genes connected with developmental processes.
differentiated genes:
Genes which exhibit differential patterns of
gene expression, particularly in connection with disease and "normal"
states.
DME Drug Metabolizing Enzyme genes Pharmacogenomics
glossary
DNA library: When a complete genome is dissected and cloned in this
way [see under template], a DNA library is created which contains a
collection of clones representing the complete genome. A typical library may
contain 105 to 108 clones. Related/equivalent? term: gene library
DNA repair genes:
Genes encoding proteins that correct errors in DNA
sequencing. [DOE]
The disregulation of repair genes can be expected to
be associated with significant, detrimental health effects, which can include an
increased prevalence of birth defects, an enhancement of cancer risk, and an
accelerated rate of aging. Although original insights into DNA repair and the
genes responsible were largely derived from studies in bacteria and yeast, well
over 125 genes directly involved in DNA repair have now been identified in
humans, and their cDNA sequence established. These genes function in a diverse
set of pathways that involve the recognition and removal of DNA lesions,
tolerance to DNA damage, and protection from errors of incorporation made during
DNA replication or DNA repair. Additional genes indirectly affect DNA repair, by
regulating the cell cycle, ostensibly to provide an opportunity for repair or to
direct the cell to apoptosis. For about 70 of the DNA repair genes listed in
Table I, both the genomic DNA sequence and the cDNA sequence and chromosomal
location have been elucidated. In 45 cases single-nucleotide polymorphisms have
been identified and, in some cases, genetic variants have been associated with
specific disorders. With the accelerating rate of gene discovery, the number of
identified DNA repair genes and sequence variants is quickly rising. This report
tabulates the current status of what is known about these genes. The report is
limited to genes whose function is directly related to DNA repair. A. Ronen, BW
Glickman "Human DNA repair genes" Environ Mol Mutagen 37 (3) : 241- 283,
2001 Related term: DNA glossary DNA repair
epigenetic genes: Genetic
Manipulation & Disruption glossary epigenetic, epigenetics
essential genes:
Deletion of these genes is lethal to the
organism. Knockouts have to be replaced by knockdowns or conditional
knockouts to provide functional
genomics information.
extranuclear genes:
Organelle, mitochondrial or chloroplast genes. Any others?
gatekeeper genes; See under tumor suppressor genes
gene
components: The parts of the gene sequence that carry
out the different functions of the GENES. MeSH 2003
gene library:
A large collection of cloned DNA fragments from a given
organism, tissue, organ, or cell type. It may contain complete genomic sequences
(GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from
messenger RNA and lacking intron sequences. MeSH, 1990 genomic library:
A form of GENE LIBRARY containing the complete DNA
sequences present in the genome of a given organism. It contrasts with a cDNA
library which contains only sequences utilized in protein coding (lacking
introns). MeSH, 1990 Related terms DNA library, gene library
housekeeping genes:
In theory, expressed in all genes.
Contrast with luxury genes. Genes that encode housekeeping
proteins. Specific housekeeping genes can be used to normalize gene
expression data.
hypothetical genes:
Cannot be related to any previously characterized
genes. Related term: ORFans
immediate-early genes: Genes that show rapid and transient expression
in the absence of de novo protein synthesis. The term was
originally used exclusively for viral genes where immediate- early referred to
transcription immediately following virus integration into the host cell. It is
also used to describe cellular genes which are expressed immediately after
resting cells are stimulated by extracellular signals such as growth factors
and neurotransmitters. MeSH, 1994 immunoglobulin genes Ig: Genes encoding the light and heavy chain
segments of immunoglobulins. Light chain gene segments are symbolized
L-V (variable), J (joining) and C (constant); Ig heavy chain segments have,
in addition, a diversity (D) gene. Each segment codes for certain amino
acids, and each has a different nucleotide sequence; the genes are assembled
by a remarkable shuffling of the segments during B lymphocyte maturation. MeSH,
1988
The
immunoglobulin genes, which can be called assembled genes [107], do not
fit any classical or neoclassical definition of the gene, since the genetic unit
in the germ line and in the mature immune cell is completely different. Petter
Portin in "The Origin, Development and Present Status of the Concept of the
Gene: A Short Historical Account of the Discoveries" Univ. of Turku,
Finland, 2000 http://www.bentham.org/cg/sample/cg1-1/Portin.pdf
inducible
genes: See under constitutive genes interrupted
genes: See split genes jumping genes: See Sequences,
DNA & beyond transposons lethal genes:
Genes which result in the premature death of the
organism; dominant lethal genes kill heterozygotes, whereas recessive lethal
genes kill only homozygotes. MeSH, 1968
Related term:
Functional
genomics embryonic lethal
luxury genes:
Specialized genes with specific functions. Compare with housekeeping
genes. marker genes: Biomarkers
mitochondrial genes:
Human mitochondrial DNA (one of the smallest known) is only 16,569 base
pairs in length … We now know the complete DNA sequence … It codes for
ribosomal RNAs and transfer RNAs used in the mitochondrion, and contains
only 13 recognizable genes that code for polypeptides … the mitochondrial
genome, unlike the much larger nuclear genome, is directly transmitted
through the maternal line, making it an ideal piece of DNA with which to
trace family lineages. Kenneth Miller, Brown Univ. “The fire within: the
unfolding story of human mitochondrial DNA, 1997 http://biocrs.biomed.brown.edu/Books/Chapters/Ch%207/Mitos/Mito-Genes.html
Useful for evolutionary research, population genetics, phylogenetics and
conservation biology. Related terms: Sequences,
DNA & beyond mtDNA; Cell
biology glossary mitochondria
nested genes:
Genes whose entire sequences are contained
within other genes. MeSH 2003
A situation in which one gene resides within
an intron of another gene, was first demonstrated in the Gart
locus of Drosophila melanogaster by
Steven Henikoff et al. [137]. In this
particular case the nested genes were on opposite strands of DNA. Chun-nan Chen et
al. [138] in turn demonstrated that in the large intron of the dunce
locus of D. melanogaster there were
actually two other genes residing, of which one was the known Sgs-4
gene. In this case the nested genes were on the same strand of DNA. Barbara
Levinson et al. [139] were the first
to demonstrate nested genes in man. The 22nd intron of the factor VIII gene
included another gene in its opposite strand. The large intron of human neurofibromatosis
gene includes a total of three other transcription units in two opposed
orientation [140]. The existence of nested genes is in contradiction to the
central hypothesis adopted by both the classical and neoclassical gene concept,
that genes are located in linear order on the chromosome. Petter
Portin in "The Origin, Development and Present Status of the Concept of the
Gene: A Short Historical Account of the Discoveries" Univ. of Turku,
Finland, Current Genomics, 2000 http://www.bentham.org/cg/sample/cg1-1/Portin.pdf
non-nuclear genes: See extranuclear genes
non-protein coding gene: See RNA
glossary micro- RNA
non-structural
genes:
Don't code for proteins? Compare structural
genes
nuclear genes:
Are these the vast majority of genes, all those
except the ones found outside the nucleus?
oncogene: Cancer
glossary
operator genes:
Control the structural genes. Nobel Prize in Physiology or
Medicine awarded in 1965 to Francois Jacob, Andre Lwoff and Jacques Monod for
discoveries related to these.
organelle genes: After serendipitously detecting mitochondrial
DNA (mtDNA) synthesis in the rotifers and the transfer of mtDNA from nurse cells
to maturing oocytes, I turned to yeast (Saccharomyces cerevisiae)
as a better experimental system for studying organelle genetics. I demonstrated
that mitochondrial genes show intracellular selection and random drift of gene
frequencies within single cells. Random drift was also demonstrated in
chloroplast genes in Chlamydomonas. From these studies I developed
the general concept that organelle genes differ from nuclear genes in
replication and partitioning at cell division are relaxed, with genomes selected
randomly for replication and partitioned randomly to daughter cells.... Banks and Birky (1985) did the first
large-scale measurement of organelle gene diversity in a natural plant
population. Later my students and I began to study molecular evolution in Polytoma
C. William Birky "Research History" Univ. of Arizona http://eebweb.arizona.edu/faculty/birky/ResearchHistory.html
Related
term: Cell biology glossary
organelles ; Narrower
term: mitochondrial genes Compare nuclear genes
orphan genes:
Putative open reading frames (ORFs)
that have no resemblance to known protein coding sequences. Since there are no
identified homologs to these orphan genes in other species, it is unknown
whether these hypothetical sequences are actually expressed. Promega
Product Focus RT-PCR eNotes http://www.promega.com/enotes/incite/in0013_tabs.htm Putative ORFs without any resemblance to
previously determined protein- coding sequences…While theoretical evolutionary
arguments support the reality of genes when homologues are found in a variety
of distant species, this is not the case for orphan genes … Our results
suggest that a vast majority of E. coli ORFs presently annotated
as “hypothetical” correspond to bona fide genes. J Alimi et al “RT-PCR
validation of 25 “orphan” genes” Genome Research 2000 Jul; 10 (7):
959- 966
Predicted genes which have no significant similarities to genes of known
function, or genes with unknown function. European Commission press release “Towards
the first complete analysis of a plant genome”, 29 Jan.1998 http://europa.eu.int/comm/research/press/1998/pr2901en.html
overlapping
genes: Genes whose nucleotide sequences overlap to some degree. The overlapped sequences may involve structural or regulatory genes of eukaryotic or prokaryotic cells.
MeSH, 1991 The first observations of overlapping genes were made in the
bacteriophages FX 174 [108] and G4
[109], and in the animal virus SV40 [110, 111]. In the bacteriophage FX
174 several genes overlapped, encoding different proteins read from the same DNA
strand but in different reading frames. In G4 the situation was even more
complicated. In that phage the same DNA strand encoded as many as three
different proteins, the messenger RNA's of which were transcribed overlappingly
in all three possible reading frames. In these phages, however, the genes
overlapped for only a few codons. In the SV40 virus, on the other hand, the
genes overlapped for as many as 122 nucleotides. Since
these early findings, overlapping genes have also been found in eukaryotic
multicellular organisms such as Drosophila
melanogaster [112], mouse [113], and rat [114]. Overlapping genes can be
located on the same DNA strand or on opposite strands. Petter
Portin in "The Origin, Development and Present Status of the Concept of the
Gene: A Short Historical Account of the Discoveries" Univ. of Turku,
Finland, 2000 http://www.bentham.org/cg1-1/portin/P.Protin.htm pangenes:
Research on adult stem cells found in the skin hints at a new class of genes –
dubbed pangenes – that can both govern a stem cell's fate and put a hold on
future differentiation until the time is right. Wellcome Trust, Stem cell fate,
How the Body Works 2005 http://genome.wellcome.ac.uk/doc_WTD020790.html parasitism
genes: Genes encoding members of the parasitome. In plant- parasitic
nematodes, parasitism genes are genes expressed in nematode esophageal gland
cells that encode secretory proteins that are secreted by the nematode through
its stylet into host tissue to direct the complex process of parasitism. EL
Davis et. al, Annual Review of Phytopathology
38: 365- 396, 2000 Related
term: -Omes & -omics glossary parasitome plasmid
genes: In microbial genomes, most often there is a single circular or linear
chromosome and there are may be many extra- chromosomal, self- replicating,
linear or circular DNA known as plasmids. In eukaryotic genomes, the chromosomes
are within the nucleus and the extra chromosomal DNA is in the mitochondria as
well as plastids in plants. In our genome projects of organisms that contain
plasmids, i.e., Borrelia borgdorferi, Methanococcus jannaschii, and Deinococcus
radiodurans, the sequencing, finishing and annotation are done for the
entire genome, chromosome and plasmids. "What place do microbial
plasmids have in defining the genome of microbes? It seems as though the term
"microbial genome" refers solely to the microbial chromosome. How are
plasmid genes, that often define key traits, included, or are they not
included?" Question from FAQ, TIGR, US http://www.tigr.org/about/faq.shtml pleiotropic gene:
A gene affecting more than one (apparently
unrelated) characteristic of the phenotype. IUPAC Biotech
polygene: Gene definitions
polygenic: Genetic variations predicted genes: See under orphan genes
and In
silico & molecular
Modeling glossary "gene prediction"
processed genes: See under pseudogenes.
promoter genes: See promoter, promoter region Sequencing
DNA & beyond glossary
pseudogenes:
Genes bearing close resemblance to known genes at
different loci, but rendered non- functional by additions or deletions in
structure that prevent normal transcription or translation. When lacking
introns and containing a poly-A segment near the downstream end (as a result
of reverse copying from processed nuclear RNA into double- stranded DNA),
they are called processed genes. MeSH, 1998
Pseudogenes are
sequences that are generally untranscribed and untranslated and which have high
homology to identified genes . However, it has recently been shown that in
different organisms or tissues functional activation may occur. Therefore, the
previous policy of assigning the gene symbol of the structural gene followed by
"P" and a number will only be approved on a case by case basis. In
future, pseudogenes will usually be assigned the next number in the relevant
symbol series, suffixed by a "P" for pseudogene (or "PS" in
the specific cases) if requested e.g. OR5B12P "olfactory receptor, family
5, subfamily B, member 12 pseudogene". However, the designation "pseudogene"
will remain in the gene name. Hester M. Wain et. al, "Guidelines for Human Gene Nomenclature"
Genomics 79(4): 464-470, 2002 http://www.genenames.org/guidelines.html Related term: pseudogenomics : Omes & omics
glossary
putative genes:
Genes predicted from EST clusters or from genomic
sequence with EST evidence, but showing no structural or functional homology, are
regarded as putative These are designated by the chromosome of origin, the
letters "orf" for open reading frame and a number in a series.
Human Genome Nomenclature Committee Hester M. Wain et. al, "Guidelines for Human Gene Nomenclature"
Genomics 79(4): 464-470, 2002
Conjectural genes, predicted by gene or exon
identification software.
Related term? transcript clusters
quantitative gene:
See under Gene
definitions polygene.
RNA genes: See In
silico & Molecular
Modeling glossary RNA computational molecular archaeology See also RNA
glossary
rRNA genes:
Genes, found in both prokaryotes and eukaryotes,
which are transcribed to produce the RNA which is incorporated into ribosomes.
Prokaryotic rRNA genes are usually found in operons dispersed throughout
the genome, whereas eukaryotic rRNA genes are clustered, multicistronic
transcriptional units. MeSH, 1999 Related term:
tRNA.
regulator genes: A gene which codes for a protein (an
activator
or repressor) having the ability to induce or repress the transcription
of other genes. IUPAC Biotech Genes which regulate or circumscribe the activity of other genes; specifically,
genes which code for proteins (repressors or activators) which regulate
the genetic transcription of the structural genes and/ or regulatory genes.
MeSH, 1968
regulatory region:
Wikipedia http://en.wikipedia.org/wiki/Regulatory_region
Prediction of regulatory regions remains difficult.
reporter genes:
Genes whose expression is easily detectable and
therefore used to study promoter activity at many positions in a target
genome. In recombinant DNA technology, these genes may be attached to a
promoter region of interest. MeSH, 1994
repressors: See under regulator genes silent genes:
Some genes are 'silent' - they can be deleted with no
apparent effect. To obtain clues about the role of these silent genes the
researchers can measure the concentrations of various metabolites within the
cell in the genes' presence and absence. This is analysis of the metabolome.
Steve Oliver, Exploring and Exploiting the Small Scale, Yeast Cells, BBSRC
Biotechnology and Biological Sciences Research Council http://www.bbsrc.ac.uk/life/small-look/oliver.html
Related to Functional
genomics gene silencing ?
split genes: The first observations of interrupted (split)
genes, i.e. genes in which there exist noncoding intron sequences between the
coding exon sequences, were made in animal viruses in 1977 [74 - 76]. These
observations were based on physical mapping
of the inner structure of the genes by means of so- called Southern blotting
... Almost at the same time as the virus observations, split genes were also
found in eukaryotic organisms [77 - 85]. Since then, split genes have been found
in all eukaryotic organisms investigated and their viruses, and it can be
said that interrupted genes are the rule rather than the exception in the
organization of the genes of multicellular eukaryotic organisms. Petter Portin
in "The Origin, Development and Present Status of the Concept of the Gene:
A Short Historical Account of the Discoveries" Univ. of Turku, Finland,
2000 http://www.bentham.org/cg1-1/portin/P.Protin.htm
Related terms:
Sequences
DNA & beyond introns
structural genes:
Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the
wild- type phenotype to be maintained or partially restored. MeSH,
1968
Relationship (if any) to gene structure?
Compare non-structural genes
suppressor genes:: Genes that inhibit expression of a previous
mutation. They allow the wild- type phenotype to be wholly or partially
restored. MeSH, 1991
A gene which helps to reverse the effects of damage to an individual’s
genetic material, typically effects which might lead to uncontrolled cell
growth. A suppressor gene may code for a protein which checks genes for
misspellings, and/ or which triggers a cell’s self- destruction if too many
genetic mutations have accumulated. PhRMA Narrower term: Cancer
glossary
tumor suppressor gene
susceptibility genes: Molecular
Medicine glossary syntenic genes: See under Gene
definitions: synteny
transposons: Sequences,
DNA & beyond
tumor suppressor gene: Cancer
glossary
virulence genes:
Most pathogenic microorganisms encounter a great
variety of environments during their pathogenic life cycle. Survival in
these different environments often requires the expression of different
virulence factors. Therefore, it is not surprising that microorganisms
have evolved very sophisticated means of sensing their environment and
regulating the expression of virulence genes. There are also a lot of
commonalities in the general design of the regulatory mechanisms used by
different microorganisms to regulate the expression of virulence genes. Jorge
Benach "General objectives for Pathogenic Bacteriology" SUNY-
Stonybrook, NY, US 2001 http://www.umc.sunysb.edu/microbiology/bacintro.html
wild-type: SNPs & other genetic
variations glossary
Bibliography
How
to look for other unfamiliar terms
IUPAC definitions are reprinted with the permission of
the International Union of Pure and Applied Chemistry.
Evolving Terminology for Emerging Technologies
Comments? Questions?
Revisions? Mary Chitty mchitty@healthtech.com
Last revised March 23, 2012
<%end if%>
This is a sub-category of Gene
definitions
FAO glossary http://www.fao.org/DOCREP/003/X3910E/X3910E06.htm
Wikipedia http://en.wikipedia.org/wiki/Luxury_gene
Wikipedia http://en.wikipedia.org/wiki/Mitochondrial_DNA#Genes
DDBJ/ EMBL/ GenBank
Feature Table, 2001 http://www.ebi.ac.uk/embl/Documentation/FT_definitions/feature_table.html
DOE, Human Genome Project Information, Oak Ridge National Laboratory, Dictionary
of Genetic Terms. 2007, 100+ definitions. http://www.ornl.gov/sci/techresources/Human_Genome/glossary/
FAO Glossary of Biotechnology for Food and Agriculture: Revised and augmented
edition, Food and Agricultural Organization, 2001 http://www.fao.org/DOCREP/004/Y2775E/Y2775E00.HTM
Searchable database, 2,000 plus terms http://www.fao.org/biotech/index_glossary.asp
Not just for food or agriculture.
IUPAC International Union of Pure and Applied Chemistry, Glossary for
Chemists of terms used in biotechnology. Recommendations, Pure & Applied
Chemistry 64 (1): 143-168, 1992. 200 + definitions.
Lewin, Benjamin Genes VII, Oxford University Press, 1999. To order: http://www.oup.co.uk/best.textbooks/biochemistry/genesvii/
Online (full- text) and updated http://www.ergito.com
Has extensive glossary
MeSH Medical Subject Headings, (PubMed Browser) National Library of Medicine,
Revised annually. 250,000 entry terms, 19,000 main headings. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=MeSH&term=