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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Chromosome 10

Reviewed August 2007

What is chromosome 10?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 10, one copy inherited from each parent, form one of the pairs. Chromosome 10 spans more than 135 million DNA building blocks (base pairs) and represents between 4 and 4.5 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 predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 10 likely contains 700 to 800 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on chromosome 10 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference provides information about the following genes on chromosome 10:

  • ABCC2
  • ACADSB
  • ACTA2
  • ARMS2
  • BMPR1A
  • C10orf2
  • CDH23
  • CHAT
  • CHST3
  • COL17A1
  • CUBN
  • EGR2
  • ERCC6
  • FAS
  • FGFR2
  • HPS1
  • HPSE2
  • HTRA1
  • KAT6B
  • KLLN
  • LDB3
  • LGI1
  • LIPA
  • MAT1A
  • MBL2
  • OAT
  • PAX2
  • PCBD1
  • PCDH15
  • PDE6C
  • PHYH
  • POLR3A
  • PRF1
  • PSAP
  • PTEN
  • RET
  • RPS24
  • SLC29A3
  • SMC3
  • UROS

How are changes in chromosome 10 related to health conditions?

Many genetic conditions are related to changes in particular genes on chromosome 10. This list of disorders associated with genes on chromosome 10 provides links to additional information.

Genetics Home Reference provides information about the following conditions related to genes on chromosome 10:

  • 2-methylbutyryl-CoA dehydrogenase deficiency
  • achromatopsia
  • age-related macular degeneration
  • Apert syndrome
  • ataxia neuropathy spectrum
  • autoimmune lymphoproliferative syndrome
  • autosomal dominant partial epilepsy with auditory features
  • Bannayan-Riley-Ruvalcaba syndrome
  • Beare-Stevenson cutis gyrata syndrome
  • cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
  • Charcot-Marie-Tooth disease
  • cholesteryl ester storage disease
  • CHST3-related skeletal dysplasia
  • Cockayne syndrome
  • congenital myasthenic syndrome
  • Cornelia de Lange syndrome
  • Cowden syndrome
  • Crouzon syndrome
  • Diamond-Blackfan anemia
  • Dubin-Johnson syndrome
  • familial dilated cardiomyopathy
  • familial hemophagocytic lymphohistiocytosis
  • familial thoracic aortic aneurysm and dissection
  • genitopatellar syndrome
  • gyrate atrophy of the choroid and retina
  • head and neck squamous cell carcinoma
  • Hermansky-Pudlak syndrome
  • Hirschsprung disease
  • histiocytosis-lymphadenopathy plus syndrome
  • hypermethioninemia
  • Imerslund-Gräsbeck syndrome
  • infantile-onset spinocerebellar ataxia
  • Jackson-Weiss syndrome
  • junctional epidermolysis bullosa
  • juvenile polyposis syndrome
  • lacrimo-auriculo-dento-digital syndrome
  • mannose-binding lectin deficiency
  • metachromatic leukodystrophy
  • multiple endocrine neoplasia
  • myofibrillar myopathy
  • nonsyndromic deafness
  • nonsyndromic paraganglioma
  • Ochoa syndrome
  • Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
  • Perrault syndrome
  • Pfeiffer syndrome
  • Pol III-related leukodystrophy
  • porphyria
  • progressive external ophthalmoplegia
  • Refsum disease
  • renal coloboma syndrome
  • tetrahydrobiopterin deficiency
  • Usher syndrome
  • UV-sensitive syndrome
  • Wolman disease

Changes in the structure or number of copies of a chromosome can also cause problems with health and development. The following chromosomal conditions are associated with such changes in chromosome 10.

cancers

Changes in the number and structure of chromosome 10 are associated with several types of cancer. For example, a loss of all or part of chromosome 10 is often found in brain tumors called gliomas, particularly in aggressive, fast-growing gliomas. The association of cancerous tumors with a loss of chromosome 10 suggests that some genes on this chromosome play critical roles in controlling the growth and division of cells. Without these genes, cells could grow and divide too quickly or in an uncontrolled way, resulting in cancer. Researchers are working to identify the specific genes on chromosome 10 that may be involved in the development and progression of gliomas.

A complex rearrangement (translocation) of genetic material between chromosomes 10 and 11 is associated with several types of blood cancer known as leukemias. This chromosomal abnormality is found only in cancer cells. It fuses part of a specific gene from chromosome 11 (the MLL gene) with part of another gene from chromosome 10 (the MLLT10 gene). The abnormal protein produced from this fused gene signals cells to divide without control or order, leading to the development of cancer.

Crohn disease

Variations in a particular region of chromosome 10 have been associated with the risk of developing Crohn disease. These genetic changes are located on the long (q) arm of the chromosome at a position designated 10q21.1. Researchers refer to this part of chromosome 10 as a "gene desert" because it contains no known genes. However, it may contain stretches of DNA that help regulate nearby genes such as ERG2. This gene has a potential role in immune system function, and researchers are interested in studying the gene further to determine whether it is associated with Crohn disease risk.

other chromosomal conditions

Other changes in the number or structure of chromosome 10 can have a variety of effects. Intellectual disability, delayed growth and development, distinctive facial features, and heart defects are common features. Changes to chromosome 10 include an extra piece of the chromosome in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and an abnormal structure called a ring chromosome 10. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. Rearrangements (translocations) of genetic material between chromosomes can also lead to extra or missing material from chromosome 10.

Is there a standard way to diagram chromosome 10?

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 10
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 10?

You may find the following resources about chromosome 10 helpful. These materials are written for the general public.

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

What glossary definitions help with understanding chromosome 10?

cancer ; cell ; chromosome ; disability ; DNA ; gene ; immune system ; inherited ; monosomy ; progression ; protein ; rearrangement ; ring chromosomes ; 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

  • Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, Rogers J. The DNA sequence and comparative analysis of human chromosome 10. Nature. 2004 May 27;429(6990):375-81. (http://www.ncbi.nlm.nih.gov/pubmed/15164054?dopt=Abstract)
  • Deloukas P, French L, Meitinger T, Moschonas NK. Report of the third international workshop on human chromosome 10 mapping and sequencing 1999. Cytogenet Cell Genet. 2000;90(1-2):1-12. (http://www.ncbi.nlm.nih.gov/pubmed/11060438?dopt=Abstract)
  • Ensembl Human Map View: Chromosome 10 (http://www.ensembl.org/Homo_sapiens/Location/Chromosome?chr=10;r=10:1-133797422)
  • Gilbert F. Chromosome 10. Genet Test. 2001 Spring;5(1):69-82. (http://www.ncbi.nlm.nih.gov/pubmed/11336406?dopt=Abstract)
  • Map Viewer: Genes on Sequence (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=human&MAPS=ideogr,ugHs,genes&CHR=10)
  • Meyer C, Schneider B, Jakob S, Strehl S, Attarbaschi A, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, den Boer ML, Pieters R, Ennas MG, Angelucci E, Koehl U, Greil J, Griesinger F, Zur Stadt U, Eckert C, Szczepański T, Niggli FK, Schäfer BW, Kempski H, Brady HJ, Zuna J, Trka J, Nigro LL, Biondi A, Delabesse E, Macintyre E, Stanulla M, Schrappe M, Haas OA, Burmeister T, Dingermann T, Klingebiel T, Marschalek R. The MLL recombinome of acute leukemias. Leukemia. 2006 May;20(5):777-84. (http://www.ncbi.nlm.nih.gov/pubmed/16511515?dopt=Abstract)
  • Ohgaki H, Kleihues P. Genetic pathways to primary and secondary glioblastoma. Am J Pathol. 2007 May;170(5):1445-53. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17456751?dopt=Abstract)
  • Rasheed BK, Wiltshire RN, Bigner SH, Bigner DD. Molecular pathogenesis of malignant gliomas. Curr Opin Oncol. 1999 May;11(3):162-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10328589?dopt=Abstract)
  • Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, Mei L, Nicolae DL, Regueiro M, Schumm LP, Steinhart AH, Rotter JI, Duerr RH, Cho JH, Daly MJ, Brant SR. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet. 2007 May;39(5):596-604. Epub 2007 Apr 15. (http://www.ncbi.nlm.nih.gov/pubmed/17435756?dopt=Abstract)
  • Scigliano S, Grégoire MJ, Schmitt M, Jonveaux PH, LeHeup B. Terminal deletion of the long arm of chromosome 10. Clin Genet. 2004 Apr;65(4):294-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15025722?dopt=Abstract)
  • UCSC Genome Browser: Statistics (http://genome.cse.ucsc.edu/goldenPath/stats.html)
  • Van Limbergen H, Poppe B, Janssens A, De Bock R, De Paepe A, Noens L, Speleman F. Molecular cytogenetic analysis of 10;11 rearrangements in acute myeloid leukemia. Leukemia. 2002 Mar;16(3):344-51. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11896537?dopt=Abstract)
  • Waggoner DJ, Chow CK, Dowton SB, Watson MS. Partial monosomy of distal 10q: three new cases and a review. Am J Med Genet. 1999 Sep 3;86(1):1-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10440820?dopt=Abstract)

 

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: August 2007
Published: March 30, 2015