Gene dosage

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Gene dosage is the number of copies of a particular gene present in a genome.[1] Gene dosage is known to be related to the amount of gene product the cell is able to express, however, amount of gene product produced in a cell is more commonly dependent on regulation of gene expression.[2] Nonetheless, changes in gene dosage (copy number variations) due to gene insertions or deletions can have significant phenotypic consequences.[1]

Most genes found in the cell are expressed as autosomal genes (see autosome) and are found in two copies, alterations to this two-copy gene dosage is significantly associated with quantitative or qualitative phenotype traits and is linked to many genetic health problems such as those associated with Down syndrome.[3] In Down syndrome, the gene expression on chromosome 21 has increased 50%, and this results in significant health and mental disabilities (1 in 800 human live births have Down syndrome).[4]

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References[edit]

  1. ^ a b Leland H. Hartwell; et al. (2011), Genetics: from genes to genomes (4th ed.), New York: McGraw-Hill, p. 435, ISBN 978-0-07-352526-6 
  2. ^ Reginald H. Garrett; et al. (2013), Biochemistry (1st Canadian ed.), Toronto: Nelson Education, pp. 1079–1083, ISBN 978-0-17-650265-2 
  3. ^ Nussbaum, Robert, L.; McInnes, Roderick, R.; Willard, Huntington, F. (2016), Thompson and Thompson Genetics in Medicine, Philadelphia, PA: Elsevier, pp. 64–67, ISBN 978-1-4377-0696-3 
  4. ^ Gardiner, Katheleen (2004-01-01). "Gene-dosage effects in Down syndrome and trisomic mouse models". Genome Biology. 5 (10): 244. doi:10.1186/gb-2004-5-10-244. ISSN 1465-6906. PMC 545589free to read. PMID 15461808.