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Chromosome 22 (human)

Chromosome 22 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 22 is the second smallest human chromosome, spanning about 49 million base pairs (the building material of DNA) and representing between 1.5 and 2 % of the total DNA in cells.

In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced.

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 22 likely contains between 500 and 800 genes.



The following are some of the genes located on chromosome 22:

Locus Gene Description Condition
22q11.21 TBX1 T-box 1
22q11.21-q11.23 COMT catechol-O-methyltransferase gene
22q12.1-q13.1 NEFH neurofilament, heavy polypeptide 200kDa
22q12.1 CHEK2 CHK2 checkpoint homolog (S. pombe)
22q12.2 NF2 neurofibromin 2 bilateral acoustic neuroma
22q13 SOX10 SRY (sex determining region Y)-box 10
22q13.2 EP300 E1A binding protein p300
22q13.3 WNT7B Wingless-type MMTV integration site family, member 7B
22q13.3 SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13 deletion syndrome

Diseases & disorders

The following diseases are some of those related to genes on chromosome 22:

Chromosomal conditions

The following conditions are caused by changes in the structure or number of copies of chromosome 22:

  • 22q11.2 deletion syndrome: Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated as q11.2. This region contains about 30 genes, but many of these genes have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region.
    The loss of one particular gene, TBX1, is thought to be responsible for many of the characteristic features of 22q11.2 deletion syndrome, such as heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, and low calcium levels. A loss of this gene does not appear to cause learning disabilities, however. Other genes in the deleted region are also likely to contribute to the signs and symptoms of 22q11.2 deletion syndrome.
  • 22q13 deletion syndrome (Phelan-McDermid syndrome): The deletion of the distal tip of the chromosome 22 is related to moderate to severe developmental delay and mental retardation. This region includes the Shank3 gene, thought to be responsible for the neurological deficits of the syndrome (Wilson et al., 2003).
    Almost all children affected by the 22q13 deletion have absent or severely delayed speech; minor facial dysmorphism; thin, flaky toenails; large, fleshy hands; large feet; prominent, poorly formed ears and other characteristics which are not visually apparent: hypotonia (97%); normal to accelerated growth (95%); increased tolerance to pain (86%); seizures (unknown percentage) [1].
  • Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including mental retardation, delayed development, physical abnormalities, and other medical problems. These changes include an extra piece of chromosome 22 in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome.
  • Cat-eye syndrome is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22. A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). The extra genetic material causes the characteristic signs and symptoms of cat-eye syndrome, including an eye abnormality called ocular iris coloboma (a gap or split in the colored part of the eye), small skin tags or pits in front of the ear, heart defects, kidney problems, and, in some cases, delayed development.
  • A rearrangement (translocation) of genetic material between chromosomes 9 and 22 is associated with several types of blood cancer (leukemia). This chromosomal abnormality, which is commonly called the Philadelphia chromosome, is found only in cancer cells. The Philadelphia chromosome has been identified in most cases of a slowly progressing form of blood cancer called chronic myeloid leukemia, or CML. It also has been found in some cases of more rapidly progressing blood cancers (acute leukemias). The presence of the Philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies.


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  • Maynard TM, Haskell GT, Lieberman JA, LaMantia AS (2002). "22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome". Int J Dev Neurosci 20 (3-5): 407-19. PMID 12175881.
  • McDermid HE, Morrow BE (2002). "Genomic disorders on 22q11". Am J Hum Genet 70 (5): 1077-88. PMID 11925570.
  • McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH (1999). "The Philadelphia story: the 22q11.2 deletion: report on 250 patients". Genet Couns 10 (1): 11-24. PMID 10191425.
  • Rinn JL, Euskirchen G, Bertone P, Martone R, Luscombe NM, Hartman S, Harrison PM, Nelson FK, Miller P, Gerstein M, Weissman S, Snyder M (2003). "The transcriptional activity of human Chromosome 22". Genes Dev 17 (4): 529-40. PMID 12600945.
  • Wilson HL, Wong ACC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE (2003) Molecular characerisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSASP2 in the major neurological symptoms. J Med Genet 40:575-584. PMID 12920066

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Chromosome_22_(human)". A list of authors is available in Wikipedia.
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