Chromosome 21

Abstract

Human chromosome 21 is the smallest of the five acrocentric chromosomes and contains ∼1.4% of the genetic material in the genome. Although relatively gene‐poor, it contains around 10 genes Mb–1, a ribosomal ribonucleic acid (rRNA) gene cluster and three keratin‐associated protein clusters.

Keywords: chromosome 21; sequencing; Down syndrome; Alzheimer disease; leukaemia

Figure 1.

Unequal distribution of nonconserved genes on chromosome 21. Left axis indicates the number of genes in each 5 Mb interval; right axis indicates the proportion of conserved, minimally conserved and nonconserved genes among the total genes.

close

References

Antonarakis SE (2001) Chromosome 21: from sequence to applications. Current Opinion in Genetics and Development 11(3): 241–246.

Chettouh Z, Croquette MF, Delobel B et al. (1995) Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP‐SOD1 region. American Journal of Human Genetics 57(1): 62–71.

Delabar JM, Theophile D, Rahmani Z et al. (1993) Molecular mapping of twenty‐four features of Down syndrome on chromosome 21. European Journal of Human Genetics 1(2): 114–124.

Delabar JM, Aflalo‐Rattenbac R and Creau N (2006) Developmental defects in trisomy 21 and mouse models. Scientific World Journal 19(6): 1945–1964.

Dermitzakis ET, Kirkness E, Schwarz S et al. (2004) Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. Genome Research 14(5): 852–859. Epub 12 April 2004.

Deutsch S, Iseli C, Bucher P, Antonarakis SE and Scott HS (2001) A cSNP map and database for human chromosome 21. Genome Research 11(2): 300–307.

Dutriaux A, Rossier J, Van Hul W et al. (1994) Cloning and characterization of a 135‐ to 500‐kb region of homology on the long arm of human chromosome 21. Genomics 22(2): 472–477.

FitzPatrick DR, Ramsay J, McGill NI et al. (2002) Transcriptome analysis of human autosomal trisomy. Human Molecular Genetics 11(26): 3249–3256.

Guipponi M, Yaspo ML, Riesselman L et al. (2000) Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21. Human Genetics 107(2): 127–131.

Hattori M, Fujiyama A, Taylor TD et al. (2000) The DNA sequence of human chromosome 21. Nature 405(6784): 311–319.

Kampa D, Cheng J, Kapranov P et al. (2004) Novel RNAs identified from an in‐depth analysis of the transcriptome of human chromosomes 21 and 22. Genome Research 14(3): 331–342.

Korenberg JR, Aaltonen J, Brahe C et al. (1997) Report and abstracts of the Sixth International Workshop on Human Chromosome 21 Mapping, 6–8 May 1996. Cold Spring Harbor, NY, USA. Cytogenetics and Cell Genetics 79(1–2): 21–52.

Lejeune J, Gautier M and Turpin R (1959) Etude des chromosomes somatiques de neuf enfants mongoliens. Comptes Rendues Hebdomadaires des Seances de l'Academie des Sciences, Paris 248: 1721–1722.

Lieman‐Hurwitz J, Dafni N, Lavie V and Groner Y (1982) Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome. Proceedings of the National Academy of Sciences of the USA 79(9): 2808–2811.

Lynn A, Kashuk C, Petersen MB et al. (2000) Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Research 10(9): 1319–1332.

Mao R, Wang X, Spitznagel EL Jr et al. (2005) Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Genome Biology 6(13): R107. Epub 16 Dec 2005.

Patterson D, van Keuren M, Drabkin H et al. (1985) Molecular analysis of chromosome 21 using somatic cell hybrids. Annals of the New York Academy of Sciences 450: 109–120.

Pletcher MT, Wiltshire T, Cabin DE, Villanueva M and Reeves RH (2001) Use of comparative physical and sequence mapping to annotate mouse chromosome 16 and human chromosome 21. Genomics 74(1): 45–54.

Rahmani Z, Blouin JL, Creau‐Goldberg N et al. (1989) Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proceedings of the National Academy of Sciences of the USA 86(15): 5958–5962.

Roizes G (2006) Human centromeric alphoid domains are periodically homogenized so that they vary substantially between homologues. Mechanism and implications for centromere functioning. Nucleic Acids Research 34(6): 1912–1924.

Rovelet‐Lecrux A, Hannequin D, Raux G et al. (2006) APP locus duplication causes autosomal dominant early‐onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genetics 38(1): 24–26.

Ruault M, Ventura M, Galtier N et al. (2003) BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure. Genomics 81(4): 391–399.

Wang SY, Cruts M, Del‐Favero J et al. (1989) A high‐resolution physical map of human chromosome 21p using yeast artificial chromosomes. Genome Research 9(11): 1059–1073.

Warren AC, Slaugenhaupt SA, Lewis JG, Chakravarti A and Antonarakis SE (1989) A genetic linkage map of 17 markers on human chromosome 21. Genomics 4(4): 579–591.

Watanabe H, Fujiyama A, Hattori M et al. (2004) DNA sequence and comparative analysis of chimpanzee chromosome 22. Nature 429(6990): 382–388.

Further Reading

Chromosome 21 gene function and pathway database with knowledge discovery tools: http://eri.uchsc.edu/chromosome21/index.html/ and http://chr21db.cudenver.edu/

Chumakov I, Rigault P, Guillou S et al. (1992) Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359(6394): 380–387.

Department of Genome Analysis Jena: sequencing data. http://genome.imb‐jena.de/

Department of Molecular Biology Keio University School of Medicine: sequencing data. http://adenine.dmb.med.keio.ac.jp/

Gardiner K, Ichikawa H, Ohki M, Patterson D and Cheng JF (1995) Localization of cDNAs to a region poorly represented in the CEPH chromosome 21 YAC contig: candidate genes for genetic diseases mapped to 21q22.3. Genomics 30(2): 376–379.

GBF Department of Genome Analysis, Braunschweig: sequencing data. http://genome.gbf.de/

Gitton Y, Dahmane N, Baik S et al. (2002) A gene expression map of human chromosome 21 orthologues in the mouse. Nature 420(6915): 586–590.

HGRG Human Genome Research Group. Chromosome 21: Sequence data and annotation. http://hgp.gsc.riken.go.jp/data_tools/data_chr21.html

Max Planck Institute for Molecular Genetics. Human Chromosome 21: an integrated chromosome 21 database. http://chr21.molgen.mpg.de/

National Center for Biotechnology Information: Online Mendelian Inheritance in Man (OMIM): catalogue of human genes and genetic disorders. http://www.ncbi.nlm.nih.gov/Omim/

Partial aneuploidies of chromosome 21. A database for research on trisomy 21. http://www.diderotp7.jussieu.fr/GRT21/aneu21.htm

Reymond A, Marigo V, Yaylaoglu MB et al. (2002) Human chromosome 21 gene expression atlas in the mouse. Nature 420(6915): 582–586.

University of Geneva Medical School/Swiss Institute of Bioinformatics. Human Chromosome 21 cSNP Database and MAP: cSNP database. http://csnp.unige.ch/

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Yahya‐Graison, Emilie Ait, and Delabar, Jean Maurice(Jul 2007) Chromosome 21. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005830.pub2]