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gene
Functional units of heredity constructed from DNA. Genes store information transcribed in the form of RNA using the sequence of DNA as the template. There are an estimated 21,800-22,600 protein-coding genes in the human genome [5].
Segments of the gene transcript may be spliced from the RNA prior to translation of messenger RNA into proteins. These segments are called introns. Exons are segments of the transcribed gene which are not spliced.
Upstream or 5' to the transcriptional start site are regions of DNA that contain sequences that regulate expression of the gene through binding of transcription factors. Within the 1st 100 base pairs of the start site, these elements are called promoter elements; further upstream, often several hundred base pairs, the elements are called enhancer elements. Enhancer elements may also be found downstream or 3' to the transcribed region of the gene.
Genes may be clustered within chromosomal loops which attach to the nuclear matrix.
Interactions
molecular events
Related
gene cluster
gene duplication
gene expression
transposon (jumping gene, transposable element, mobile genetic element, selfish DNA)
Specific
bicistronic gene
evolutionary divergent human gene
gene with TATA box
homeobox gene
housekeeping gene
human longevity gene
hypoxia induced genes
imprinted gene
invertebrate-specific gene
mitochondrial gene
non-human gene
oncogene or viral oncogene
p53-responsive gene
proto-oncogene
ribosomal RNA gene (rRNA gene)
small nuclear RNA [snRNA] gene
T box gene
tRNA gene
tumor suppressor gene or anti-oncogene
unclassified gene
viral gene
Xg blood group locus
General
deoxyribonucleic acid (DNA)
regulatory molecule
template
Properties
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
References
- Stedman's Medical Dictionary 27th ed, Williams &
Wilkins, Baltimore, 1999
- Microarrays for the Neurosciences, Geschwind DH & Greg JP (eds),
MIT Press, Cambridge MA, 2002
- International Human Genome Sequencing Consortium.
Finishing the euchromatic sequence of the human genome.
Nature. 2004 Oct 21;431(7011):931-45.
PMID: 15496913
- Z. Cao, et al,
The genome of Mesobuthus martensii reveals a unique adaptation
model of arthropods.
Nat Commun. 2013;4:2602
PMID: 24129506
- Pertea1 M and Salzberg SL
Between a chicken and a grape: estimating the number of human
genes.
Genome Biol. 2010; 11(5): 206
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898077/