Chromosomes are long strings of DNA, bound around supporting protein structures, which normally reside within the nucleus of each cell. For each cell type, at a particular time in the cell cycle the three dimensional position of the chromosome can be predicted fairly accurately relative to other chromosomes and nuclear structures. Indeed in somatic cells there is claimed to be a relation between where gene expression takes place, chromosome position and higher organism structure as well as sperm. The DNA on the chromosomes encodes 20,000-25,000 protein encoding genes and many more regulator genes, such as for miRNA which are still being characterised. This makes up our unique genetic blueprint.
The collection of all genetic material of an organism is referred to as its genome. That of Homo sapiens is visualised here. There are 23 pairs of chromosomes in most human cells, 22 are autosomes, while the remaining pair are the sex chromosomes (X or Y).
Various parts of chromosome are identified with names. Telomeres are the end sections. Centromeres are the part of the chromosome which hold the two identical copies of DNA together during mitosis. Shorter arm named p (for petit) and the longer arm q (etymology: either 'q' as next letter after p or French 'queue' meaning tail).
Within the respective p or q regions, each arm is divided into between 1 and 3 regions primarily based on Giemsa staining of chromosomes, numbered from the centromere outwards towards the telomere, e.g. 7p1 means the first region of the short arm of chromosome 7. Further subdivisions are added depending on alternating light and dark bands. With increased resolution, further subdivisions can be added, e.g. 7q11.22 means the long arm of chromosome 7 in region 1, band 1, sub-band 2, sub-sub-band 2. The correct way to read the notation is "seven q one one dot two two" and not "seven q eleven dot twenty-two".
For some time, until 1955 the human chromosome number was thought to be 48 although the counts were not consistent. During the Christmas/New Year period 1955/56 two researchers (Albert Levan and Joe Hin Tjio) got it all sorted out at the University of Lund, Sweden.
- ↑ Bolzer A, Kreth G, Solovei I, Koehler D, Saracoglu K, Fauth C, Müller S, Eils R, Cremer C, Speicher MR, Cremer T. Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettes. PLoS biology. 2005 May; 3(5):e157.(Link to article – subscription may be required.)
- ↑ Cherniak C, Rodriguez-Esteban R. Body maps on the human genome. Molecular cytogenetics. 2013; 6(1):61.(Epub) (Link to article – subscription may be required.)
- ↑ Mudrak OS, Nazarov IB, Jones EL, Zalensky AO. Positioning of chromosomes in human spermatozoa is determined by ordered centromere arrangement. PloS one. 2012; 7(12):e52944.(Link to article – subscription may be required.)
- ↑ International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2004 Oct 21;431(7011):931-45. (Direct link - subscription may be required).
- ↑ TIMONEN S, THERMAN E. Variation of the somatic chromosome number in man. Nature. 1950 Dec 9; 166(4232):995-6.
- ↑ Arnason U. 50 years after--examination of some circumstances around the establishment of the correct chromosome number of man. Hereditas. 2006 Dec; 143(2006):202-11.(Link to article – subscription may be required.)
- ↑ Tjio JH, Levan A. The chromosome number in man. Hereditas 1956:42;1-6