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The human genome is the total collection of genes in a human being contained in the human chromosome, composed of over three billion nucleotides. [2] In April 2003, the Human Genome Project was able to sequence all the DNA in the human genome, and to discover that the human genome was composed of around 20,000 protein coding genes.
These sequences ultimately lead to the production of all human proteins, although several biological processes (e.g. DNA rearrangements and alternative pre-mRNA splicing) can lead to the production of many more unique proteins than the number of protein-coding genes. The human reference genome contains somewhere between 19,000 and 20,000 ...
Schematic karyogram showing the human genome, with 23 chromosome pairs, and the human mitochondrial genome to scale at bottom left (annotated "MT"). Its genome is relatively tiny compared to the rest, and its copy number per human cell varies from 0 ( erythrocytes ) [ 1 ] up to 1,500,000 ( oocytes ).
The first genome to be sequenced was that of the virus φX174 in 1977; [4] the first genome sequence of a prokaryote (Haemophilus influenzae) was published in 1995; [5] the yeast (Saccharomyces cerevisiae) genome was the first eukaryotic genome to be sequenced in 1996. [6]
This is an accepted version of this page This is the latest accepted revision, reviewed on 11 January 2025. Science of genes, heredity, and variation in living organisms This article is about the general scientific term. For the scientific journal, see Genetics (journal). For a more accessible and less technical introduction to this topic, see Introduction to genetics. For the Meghan Trainor ...
Gene nomenclature was established by the HUGO Gene Nomenclature Committee (HGNC), a committee of the Human Genome Organisation, for each known human gene in the form of an approved gene name and symbol (short-form abbreviation), which can be accessed through a database maintained by HGNC. Symbols are chosen to be unique, and each gene has only ...
Genes that encode for continuous traits are found widely across the genome, with a gene that has a significant effect on trait expression occurring every 10,000-100,000 base pairs. The distance between these significant effects within the genome implies that these significant genes are not tied to similar regulatory pathways.
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.