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Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans more than 158 million base pairs (the building material of DNA) and represents between 5 and 5.5 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 7 likely contains between 1,000 and 1,400 genes. It also contains the Homeobox A gene cluster.
The following are some of the genes located on chromosome 7:
- ASL: argininosuccinate lyase
- CCM2: cerebral cavernous malformation 2
- CGRP-RCP: calcitonin gene-related peptide receptor component protein
- CFTR: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
- COL1A2: collagen, type I, alpha 2
- CYLN2: cytoplasmic linker 2
- DFNA5: deafness, autosomal dominant 5
- DLD: dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
- ELN: elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
- GARS: glycyl-tRNA synthetase
- GTF2I: general transcription factor II, i
- GTF2IRD1: GTF2I repeat domain containing 1
- GUSB: beta-glucuronidase
- HSPB1: heat shock 27kDa protein 1
- KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
- KRIT1: KRIT1, ankyrin repeat containing
- LIMK1: LIM domain kinase 1
- p47 phox or NCF1: 47 kDa neutrophil oxidase factor / neutrophil cytosol factor 1
- PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
- SBDS: Shwachman-Bodian-Diamond syndrome
- SLC25A13: solute carrier family 25, member 13 (citrin)
- SLC26A4: solute carrier family 26, member 4
- TFR2: transferrin receptor 2
- TPST1: tyrosylprotein sulfotransferase 1
The following diseases are some of those related to genes on chromosome 7:
- argininosuccinic aciduria
- Aspergers Syndrome
- cerebral cavernous malformation
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 2
- congenital bilateral absence of vas deferens
- cystic fibrosis
- distal spinal muscular atrophy, type V
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, arthrochalasia type
- Ehlers-Danlos syndrome, classical type
- hemochromatosis, type 3
- hereditary nonpolyposis colorectal cancer
- maple syrup urine disease
- maturity onset diabetes of the young type 2
- mucopolysaccharidosis type VII or Sly syndrome
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- osteogenesis imperfecta
- osteogenesis imperfecta, type I
- osteogenesis imperfecta, type II
- osteogenesis imperfecta, type III
- osteogenesis imperfecta, type IV
- p47-phox-deficient chronic granulomatous disease
- Pendred syndrome
- Romano-Ward syndrome
- Shwachman-Diamond syndrome
- Williams syndrome
The following conditions are caused by changes in the structure or number of copies of chromosome 7:
- Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.
While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.
- Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental retardation, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosome 7 in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). In some cases, several DNA building blocks (nucleotides) are deleted or duplicated in part of chromosome 7. A circular structure called ring chromosome 7 is also possible. A ring chromosome occurs when both ends of a broken chromosome are reunited.
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