Chromosome 18 (human)
|Chromosome 18 (human)|
Pair of human chromosome 18 (after G-banding).
One is from mother, one is from father.
Chromosome 18 pair in human male karyogram.
|Number of genes||988
Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. Two current estimates differ by only 3%, with one estimate giving 988 genes, and the other estimate giving 1,017
The following are some of the genes located in chromosome 18:
- DCC: Deleted in Colorectal Cancer
- FECH: ferrochelatase (protoporphyria)
- GREB1L: encoding protein Growth regulation by estrogen in breast cancer-like
- NPC1: Niemann-Pick disease, type C1
- SMAD4: SMAD, mothers against DPP homolog 4 (Drosophila)
- KC6: Keratoconus gene 6, discovery reported in 2005;
Diseases and disorders
The following diseases are some of those related to genes on chromosome 18:
- Erythropoietic protoporphyria
- Hereditary hemorrhagic telangiectasia
- Niemann-Pick disease Type C
- Selective Mutism
- Edwards syndrome (Trisomy 18)
- Tetrasomy 18p
- Monosomy 18p
- Pitt Hopkins Syndrome 18q21
- 18Q- (proximal or distal deletion of the 18th chromosome)
- "Homo sapiens (human) Chromosome 18". NCBI Map Viewer. National Center for Biotechnology Information. Retrieved January 20, 2017.
- "Homo sapiens: Chromosome summary: Chromosome 18:1-80373285". Wellcome Trust Sanger Institute. Vega Genome Browser 58. Retrieved January 20, 2017.
- "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
- "chromosome18". www.chromosome18.org. Retrieved 2017-01-19.
- Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES (2005). "DNA sequence and analysis of human chromosome 18". Nature. 437 (7058): 551–5. doi:10.1038/nature03983. PMID 16177791.
- Chen H, Wang N, Huo Y, Sklar P, MacKinnon DF, Potash JB, McMahon FJ, Antonarakis SE, DePaulo JR Jr, Ross CA, McInnis MG (2003). "Trapping and sequence analysis of 1138 putative exons from human chromosome 18". Mol Psychiatry. 8 (6): 619–23. doi:10.1038/sj.mp.4001288. PMID 12851638.
- Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 18". Genet Test. 1 (1): 69–71. PMID 10464628.
|Wikimedia Commons has media related to Human chromosome 18.|
|This genetics article is a stub. You can help Wikipedia by expanding it.|