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Chromosome 16

Reviewed January 2007

What is chromosome 16?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs. Chromosome 16 spans about 89 million base pairs (the building blocks of DNA) and represents almost 3 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 predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 16 likely contains between 850 and 1,200 genes.

Genes on chromosome 16 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference includes these genes on chromosome 16:

  • ABCC6:ATP-binding cassette, sub-family C (CFTR/MRP), member 6
  • CDH1:cadherin 1, type 1, E-cadherin (epithelial)
  • CREBBP:CREB binding protein (Rubinstein-Taybi syndrome)
  • FOXC2:forkhead box C2 (MFH-1, mesenchyme forkhead 1)
  • GAN:giant axonal neuropathy (gigaxonin)
  • JPH3:junctophilin 3
  • LITAF:lipopolysaccharide-induced TNF factor
  • MC1R:melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
  • MEFV:Mediterranean fever
  • MLYCD:malonyl-CoA decarboxylase
  • NOD2:nucleotide-binding oligomerization domain containing 2
  • PALB2:partner and localizer of BRCA2
  • PKD1:polycystic kidney disease 1 (autosomal dominant)
  • SALL1:sal-like 1 (Drosophila)
  • SPG7:spastic paraplegia 7 (pure and complicated autosomal recessive)
  • TAT:tyrosine aminotransferase
  • TSC2:tuberous sclerosis 2

GeneCards provides a table of genes on chromosome 16 and disorders related to those genes (http://www.genecards.org/cgi-bin/listdiseasecards.pl?type=chrom&search=16).

There are many genetic conditions related to genes on chromosome 16.

Genetics Home Reference includes these conditions related to genes on chromosome 16:

  • breast cancer
  • Charcot-Marie-Tooth disease
  • Crohn disease
  • familial Mediterranean fever
  • giant axonal neuropathy
  • Huntington disease-like syndrome
  • lymphedema-distichiasis syndrome
  • malonyl-coenzyme A decarboxylase deficiency
  • oculocutaneous albinism
  • polycystic kidney disease
  • pseudoxanthoma elasticum
  • Rubinstein-Taybi syndrome
  • spastic paraplegia type 7
  • Townes-Brocks Syndrome
  • tuberous sclerosis
  • tyrosinemia

GeneCards provides a table of genes on chromosome 16 and disorders related to those genes (http://www.genecards.org/cgi-bin/listdiseasecards.pl?type=chrom&search=16).

What chromosomal conditions are related to chromosome 16?

The following conditions are caused by changes in the structure or number of copies of chromosome 16.

cancers

Changes in the structure of chromosome 16 are associated with several types of cancer. These genetic changes are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. In some cases, chromosomal rearrangements called translocations disrupt the region of chromosome 16 that contains the CREBBP gene. The protein produced from this gene normally plays a role in regulating cell growth and division, which helps prevent the development of cancers.

Researchers have found a translocation between chromosome 8 and chromosome 16 that disrupts the CREBBP gene in some people with a cancer of blood-forming cells called acute myeloid leukemia (AML). Another translocation involving the CREBBP gene, which rearranges pieces of chromosomes 11 and 16, has been found in some people who have undergone cancer treatment. This chromosomal change is associated with the later development of AML and two other cancers of blood-forming tissues (chronic myelogenous leukemia and myelodysplastic syndrome). These are sometimes described as treatment-related cancers because the translocation between chromosomes 11 and 16 occurs following chemotherapy for other forms of cancer.

A chromosomal rearrangement called an inversion has been identified in rare cases of AML. This inversion involves the breakage of chromosome 16 in two places; the resulting piece of DNA is reversed and re-inserted into the chromosome. This form of AML is characterized by a high rate of remission and a favorable outcome.

Rubinstein-Taybi syndrome

A few cases of severe Rubinstein-Taybi syndrome (also known as chromosome 16p13.3 deletion syndrome) have resulted from a deletion of genetic material from the short (p) arm of chromosome 16. When this deletion is present in all of the body's cells, it can cause serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and an increased risk of life-threatening infections. Affected individuals also have many of the typical features of Rubinstein-Taybi syndrome, including intellectual disability, distinctive facial features, and broad thumbs and first toes. Infants born with the severe form of this disorder usually survive only into early childhood.

Several genes are missing as a result of the deletion in the short arm of chromosome 16. The deleted region includes the CREBBP gene, which is often mutated or missing in people with the typical features of Rubinstein-Taybi syndrome. Researchers believe that the loss of additional genes in this region probably accounts for the serious complications associated with severe Rubinstein-Taybi syndrome.

other chromosomal conditions

Trisomy 16 occurs when cells have three copies of chromosome 16 instead of the usual two copies. Full trisomy 16, which occurs when all of the body's cells contain an extra copy of chromosome 16, is not compatible with life. A similar but less severe condition called mosaic trisomy 16 occurs when only some of the body's cells have an extra copy of chromosome 16. The signs and symptoms of mosaic trisomy 16 vary widely and can include slow growth before birth (intrauterine growth retardation), delayed development, and heart defects.

Other changes in the number or structure of chromosome 16 can have a variety of effects. Intellectual disability, delayed growth and development, distinctive facial features, weak muscle tone (hypotonia), heart defects, and other medical problems are common. Frequent changes to chromosome 16 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 16p or 16q) and a missing segment of the long arm of the chromosome in each cell (partial monosomy 16q).

Is there a standard way to diagram chromosome 16?

Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome's relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

Ideogram of chromosome 16
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about chromosome 16?

You may find the following resources about chromosome 16 helpful. These materials are written for the general public.

  • Additional NIH Resources - National Institutes of Health
    National Human Genome Research Institute: Chromosome Abnormalities (http://www.genome.gov/11508982)
  • Educational resources - Information pages
    University of British Columbia: Chromosome 16 Mosaicism (http://www.medgen.ubc.ca/wrobinson/mosaic/specific/trisomy16.htm)
  • MedlinePlus - Health information
    Encyclopedia: Chromosome (http://www.nlm.nih.gov/medlineplus/ency/article/002327.htm)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rsts)
  • Research Resources - Tools for researchers
    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Indexbychrom/idxa_16.html)
    • Cancer Genetics Web (http://www.cancerindex.org/geneweb/clinkc16.htm)
    • Database of Genomic Variants (http://projects.tcag.ca/variation/cgi-bin/tbrowse/tbrowse?source=hg17&table=Locus&show=table&keyword=&flop=AND&fcol=_C19&fcomp==&fkwd=chr16&cols=)
    • Ensembl Human Map View: Chromosome 16 (http://www.ensembl.org/Homo_sapiens/mapview?chr=16)
    • Oak Ridge National Laboratory (http://genome.ornl.gov/cgi-bin/GCat/GetChrom.cgi?org=human&chr=16)
    • The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. (http://www.nature.com/nature/journal/v432/n7020/full/nature03187.html)
    • U.S. Department of Energy: Human Chromosome Launchpad (http://www.ornl.gov/sci/techresources/Human_Genome/launchpad/chrom16.shtml)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Chromosomes,+Human,+Pair+16[MAJR])+AND+(Chromosome+16[TI])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1800+Days)
  • Map Viewer - Genetic maps (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?org=human&maps=ideogr,morbid,pheno&zoom=100&chr=16)

What glossary definitions help with understanding chromosome 16?

acute ; acute myeloid leukemia ; AML ; base pair ; cancer ; cell ; chemotherapy ; chromosome ; chronic ; complication ; deletion ; DNA ; failure to thrive ; first toe ; gene ; hypotonia ; infection ; intrauterine growth retardation ; inversion ; leukemia ; monosomy ; mosaic ; muscle tone ; myelodysplastic syndrome ; myelogenous ; myeloid ; protein ; rearrangement ; remission ; sign ; symptom ; syndrome ; tissue ; translocation ; trisomy

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanova E, Volleth M, Haaf T, Kalscheuer VM. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006 Sep;120(2):179-86. Epub 2006 Jun 17. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16783566)
  • Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature. Am J Med Genet. 2002 Dec 15;113(4):339-45. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12457405)
  • Ensembl Human Map View: Chromosome 16 (http://www.ensembl.org/Homo_sapiens/mapview?chr=16)
  • Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 16. Genet Test. 1999;3(2):243-54. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10464676)
  • Goodman RH, Smolik S. CBP/p300 in cell growth, transformation, and development. Genes Dev. 2000 Jul 1;14(13):1553-77. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10887150)
  • Iyer NG, Ozdag H, Caldas C. p300/CBP and cancer. Oncogene. 2004 May 24;23(24):4225-31. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15156177)
  • Langlois S, Yong PJ, Yong SL, Barrett I, Kalousek DK, Miny P, Exeler R, Morris K, Robinson WP. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat Diagn. 2006 Jun;26(6):548-58. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16683298)
  • Map Viewer: Genes on Sequence (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=human&MAPS=ideogr,ugHs,genes&CHR=16)
  • Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA. The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15616553)
  • Pai, G Shashidhar; Lewandowski, Raymond C; Borgaonkar, Digamber S; Handbook of chromosomal syndromes; Hoboken, N.J. : Wiley-Liss, c2003. p244-255.
  • Reilly JT. Pathogenesis of acute myeloid leukaemia and inv(16)(p13;q22): a paradigm for understanding leukaemogenesis? Br J Haematol. 2005 Jan;128(1):18-34. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15606546)
  • Rozman M, Camos M, Colomer D, Villamor N, Esteve J, Costa D, Carrio A, Aymerich M, Aguilar JL, Domingo A, Sole F, Gomis F, Florensa L, Montserrat E, Campo E. Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation. Genes Chromosomes Cancer. 2004 Jun;40(2):140-5. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15101047)
  • UCSC Genome Browser: Statistics from NCBI Build 36.1, March 2006 (http://genome.cse.ucsc.edu/goldenPath/stats.html)
  • Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet. 2003 Mar;40(3):175-82. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12624135)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2007
Published: January 23, 2009