Chromosome 16 (human)
| Chromosome 16 (human) | |
|---|---|
 Pair of human chromosome 16 (after G-banding). One is from mother, one is from father. | |
 Chromosome 16 pair in human male karyogram. | |
| Features | |
| Length (bp) | 90,338,345 bp |
| Number of genes | 1,535 |
| Type | Autosome |
| Centromere position | Metacentric[1] |
| Identifiers | |
| RefSeq | NC_000016 |
| GenBank | CM000678 |
Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 16 probably contains between 850 and 1,200 genes.
In February 2010, a new cause of obesity due to a microdeletion on chromosome 16 was announced. It may explain about 1% of obesity cases. This research was carried out by Professor Froguel, a CNRS researcher, in Lille, and others at Imperial College in London and Vaudois University and was published in Nature on February 4, 2010. This defect was identified using DNA microarrays and it leads to the suppression of about thirty genes in one region of chromosome 16. Research showed that this microdeletion is relatively common in obese people but lacking in most non-obese people.
Associated genes
- ACSM2B: encoding enzyme Acyl-coenzyme A synthetase ACSM2B, mitochondrial
- ACSM3: encoding enzyme Acyl-coenzyme A synthetase ACSM3, mitochondrial 2
- ARL6IP1: encoding protein ADP-ribosylation factor-like protein 6-interacting protein 1
- ARMC5
- ADHD1: Attention deficit-hyperactivity disorder, susceptibility to, 1
- BMIQ5: Body mass index quantitative trait locus 5
- C16orf13/JFP2: encoding protein Chromosome 16 open reading frame 13
- C16orf62: encoding protein Chromosome 16 open reading frame 62
- C16orf95
- C16orf96
- CHDS1: Coronary heart disease, susceptibility to, 1
- DEL16p13.3, RSTSS: Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome)
- DUP16p13.3, C16DUPq13.3: Chromosome 16p13.3 duplication syndrome
- HBHR, ATR1: Alpha-thalassemia/mental retardation syndrome, type 1
- IBD8: Inflammatory bowel disease 8
- IHPS2: Pyloric stenosis, infantile hypertrophic, 2
- MC1R: melanocortin 1 receptor
- MCOPCT1: Microphthalmia with cataract 1
- PKDTS: Polycystic kidney disease, infantile severe, with tuberous sclerosis
- RPS15A: encoding protein 40S ribosomal protein S15a
Diseases and disorders
- Trisomy 16
- Familial Mediterranean fever (FMF)
- Thalassemia
- Autosomal dominant polycystic kidney disease (PKD-1)
- Asperger syndrome
- Schizophrenia[2]
- Attention deficit hyperactivity disorder (ADHD)
- Synesthesia
Associated traits
References
- ↑ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
- ↑ McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J (November 2009). "Microduplications of 16p11.2 are associated with schizophrenia". Nat. Genet. 41 (11): 1223–7. doi:10.1038/ng.474. PMC 2951180
. PMID 19855392.
- Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243–54. PMID 10464676.
- Martin J, et al. (2004). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988–94. doi:10.1038/nature03187. PMID 15616553.
- Miller, David T; Nasir, Ramzi; Sobeih, Magdi M; Shen, Yiping; Wu, Bai-Lin; Hanson, Ellen (2011-10-27). 16p11.2 Microdeletion. PMID 20301775. NBK11167. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle.
- http://omim.org/search?index=geneMap&search=16p13.3
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