Human Chromosomes


Human chromosomes are the structures that house the hereditary blueprint that codes for all the traits a child will inherit from its parents. Changes in the number or structure of the chromosomes can lead to disease.

Keywords: chromosome structure; chromosome banding; chromosome abnormalities; acquired chromosome abnormalities; genomic imprinting

Figure 1.

Model of chromosome packaging. The DNA is wound around the nucleosome, a unit of packaging consisting of a core of histone proteins. The nucleosomes are in turn coiled into a chromatin fibre. At metaphase, each chromatid is composed of loops of chromatin fibre attached to a scaffold of nonhistone acidic proteins to form the sister chromatids. Prepared by Barrett Keitges.

Figure 2.

Ideogram of representative G‐banded chromosomes. The (Cen), (St) and (Sa) are labelled. Prepared by David McDonald.

Figure 3.

G‐banded normal male karyotype. The homologous chromosomes are paired by their length, banding pattern and the location of the centromere, which is marked by dashes. The sex chromosomes are paired in the corner. Chromosomes 13, 14, 15, 21 and 22 are acrocentric chromosomes with the secondary constriction, composed of stalks and satellites, above the centromere.


Further Reading

Bartolomei MS and Tilghman SM (1997) Genomic imprinting in mammals. Annual Review of Genetics 31: 493–525.

Craig JM and Bickmore WA (1993) Chromosome bands – flavours to savour. BioEssays 15: 349–354.

Heim S and Mitelman F (1995) Cancer Cytogenetics, 2nd edn. New York: Wiley‐Liss.

ISCN (1995) Mitelman F (ed.) An International System for Human Cytogenetic Nomenclature. Basel: Karger.

Strachan T and Read AP (1996) Human Molecular Genetics. Oxford: Bios Scientific Publishers.

Therman E and Sulsman M (1992) Human Chromosomes Structure, Behavior, Effects, 3rd edn. New York: Springer‐Verlag.

Thompson MW, McInnes R and Willard HF (1991) Thompson and Thompson Genetics in Medicine, 5th edn. Philadelphia: WB Saunders.

Willard HF (1998) Centromeres: the missing link in development of human artificial chromosomes. Current Opinion in Genetics and Development 8: 219–225.

Zakian VA (1995) Telomeres: beginning to understand the end. Science 270: 1601–1607.

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How to Cite close
Keitges, Elisabeth, and Luthardt, Frederick W(Apr 2001) Human Chromosomes. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0001445]