Human chromosome
Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs 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.[4]
Human chromosomes are numbered by their apparent size in the karyotype, with chromosome 1 being the largest and chromosome 22 having originally been identified as the smallest. However, genome sequencing has revealed that chromosome 21 is actually smaller than chromosome 22.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 22. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5]
Gene list
The following is a partial list of genes on human chromosome 22. For complete list, see the link in the infobox on the right.
- ADM2: encoding protein ADM2
- APOBEC3B: encoding protein probable DNA dC->dU-editing enzyme APOBEC-3B
- ARFGAP3: encoding protein ADP-ribosylation factor GTPase-activating protein 3
- ASCC2: encoding protein activating signal cointegrator 1 complex subunit 2
- ATF4 (22q13) encoding protein cyclic AMP-dependent transcription factor ATF-4
- BCR (22q11) encoding breakpoint cluster region protein
- CARD10 (22q13) encoding caspase recruitment domain-containing protein 10
- CBX7 (22q13) encoding chromobox protein homolog 7
- CDC42EP1: CDC42 effector protein 1
- CECR1: cat eye syndrome critical region protein 1
- CHEK2 (22q12)
- COMT
- CRELD2: cysteine-rich with EGF-like domain protein 2
- CSDC2: cold shock domain-containing protein D2
- CSNK1E: encoding enzyme casein kinase I isoform epsilon or CK1ε,
- DGCR5: encoding a long non-coding RNA
- DGCR6: DiGeorge syndrome critical region gene 6
- EP300
- EP300-AS1
- EWSR1
- TAFA5: family with sequence similarity 19 member A5
- FAM227A: encoding protein FAM227A
- FBLN1
- GTPBP1: GTP-binding protein 1
- HMGXB4: encoding protein HMG-box containing 4
- IFT27: encoding protein intraflagellar transport 27
- IGL@
- IGLJ3 encoding protein immunoglobulin lambda joining 3
- IGLL5: encoding protein immunoglobulin lambda like polypeptide 5
- KIAA0930: encoding uncharacterized protein KIAA0930
- LINC00899 encoding protein long intergenic non-protein coding RNA 899
- MAPK1
- MAPK12
- MCAT: encoding enzyme malonyl CoA-acyl carrier protein transacylase, mitochondrial
- MCM5
- MIF
- MIRLET7BHG: encoding protein MIRLET7B host gene (non-protein coding)
- MKL1
- MMP11
- MN1
- MTP18:
- MYH9
- NF2
- NOL12: encoding protein nucleolar protein 12
- PARVB
- PDGFB
- PI4KA: encoding enzyme phosphatidylinositol 4-kinase alpha
- PI4KAP2: pseudogene phosphatidylinositol 4-kinase alpha pseudogene 2
- PISD: encoding enzyme phosphatidylserine decarboxylase proenzyme
- PNPLA3: encoding enzyme patatin-like phospholipase domain-containing protein 3
- PRAME: encoding protein melanoma antigen preferentially expressed in tumors
- RAC2
- RBX1
- RNR5: encoding RNA, ribosomal 45S cluster 5
- RNU12: encoding protein RNA, U12 small nuclear
- RRP7A: encoding protein ribosomal RNA-processing protein 7 homolog A
- RTCB: encoding protein RNA 2',3'-cyclic phosphate and 5'-OH ligase
- RTL6: encoding protein retrotransposon Gag Like 6
- SAMM50: encoding protein sorting and assembly machinery component 50 homolog
- SEPT3: encoding protein neuronal-specific septin-3
- SEPT5
- SHFM3P1:
- SOX10
- SYNGR1: encoding protein synaptogyrin-1
- TBC1D10A: encoding protein TBC1 domain family member 10A
- TEF: encoding protein thyrotroph embryonic factor
- THAP7: encoding protein THAP domain-containing protein 7
- THOC5: encoding protein THO complex subunit 5 homolog
- TRMU: encoding enzyme mitochondrial tRNA-specific 2-thiouridylase 1
- TTC28: encoding protein tetratricopeptide repeat domain 28
- TTLL1: encoding enzyme probable tubulin polyglutamylase TTLL1
- XRCC6: encoding protein Ku70
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.
- 22q11.2 distal deletion syndrome
- 22q13 deletion syndrome
- Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including intellectual disability, 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.
- Emanuel syndrome is a translocation of chromosomes 11 and 22. Originally known as supernumerary der (22) syndrome, it occurs when an individual has an extra chromosome composed of pieces of the 11th and 22nd chromosomes.
