Chromosome 7 (human)

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Chromosome 7 (human)
Human male karyotpe high resolution - Chromosome 7 cropped.png
Human chromosome 7 pair after G-banding.
One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 7.png
Chromosome 7 pair in human male karyogram.
Length (bp) 159,345,973 bp
Number of genes 2,774[1]
Type Autosome
Centromere position Submetacentric[3]
RefSeq NC_000007
GenBank CM000669
Map of Chromosome 7
Ideogram of human chromosome 7. Mbp means mega base pair. See locus for other notation.

Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans about 159 million[4] 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 genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 10%, with one estimate giving 2,774[1] genes, and the other estimate giving 2,500[2] genes.


Some of the genes found on human chromosome 7 are:

  • AGK: encoding enzyme mitochondrial acylglycerol kinase
  • AASS: encoding enzyme Alpha-aminoadipic semialdehyde synthase, mitochondrial
  • C7orf20: encoding protein UPF0363 protein C7orf20
  • C7orf43: encoding protein
  • EZH2: encoding enzyme histone-lysine N-methyltransferase for histone h3 lysine 27
  • INTS1: encoding protein Integrator complex subunit 1
  • KDM7A: encoding protein Lysine demethylase 7A
  • PVRIG: encoding protein Poliovirus receptor related immunoglobulin domain containing

Diseases and disorders[edit]

The following diseases are some of those related to genes on chromosome 7:

Chromosomal disorders[edit]

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 disorder, 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.[15]


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Further reading[edit]

  • Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML (Nov 2002). "Pure partial trisomy 7q: two new patients and review". American Journal of Medical Genetics. 113 (2): 218–24. doi:10.1002/ajmg.10719. PMID 12407716. 

External links[edit]