WordNet
- a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 chromosome pairs plus two sex chromosomes"
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- 染色体
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/10/30 21:17:30」(JST)
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| Chromosome 21 (human) |
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Pair of human chromosome 21 (after G-banding).
One is from mother, one is from father.
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Chromosome 21 pair in human male karyogram.
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| Features |
| Length (bp) |
48,129,895 |
| Number of genes |
477 (NCBI)
635 (EBI) |
| Type |
Autosome |
| Centromere position |
Acrocentric[1] |
| Identifiers |
| RefSeq |
NC_000021 |
| GenBank |
CM000683 |
Ideogram of human chromosome 21. Mbp means mega base pair. See locus for other notation.
Chromosome 21 is one of the 23 pairs of chromosomes in humans. People without Down's syndrome have two copies of this chromosome. The trisomy of the 21st chromosome causes Down syndrome. Chromosome 21 is the smallest human chromosome, with 48 million nucleotides (the building material of DNA) representing about 1.5 percent of the total DNA in cells.
In 2000, researchers working on the Human Genome Project announced that they had determined the sequence of base pairs that make up this chromosome. Chromosome 21 was the second human chromosome to be fully sequenced, after chromosome 22.
Identifying genes on each chromosome is an active area of genetic research. However, because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Depending on the genome annotation used, chromosome 21 contains 477 or 635 genes.[2][3]
Contents
- 1 Genes
- 2 Diseases and disorders
- 3 Chromosomal conditions
- 4 References
Genes
The following are some of the genes located on chromosome 21:
- APP: amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)[4]
- C21orf55/DNAJC28: encoding protein DnaJ homolog subfamily C member 28
- C21orf56: encoding protein Uncharacterized protein C21orf56
- C21orf59: Chromosome 21 open reading frame 59
- C21orf66: encoding protein GC-rich sequence DNA-binding factor homolog
- CBS: cystathionine-beta-synthase
- CLDN14: claudin 14
- HLCS: holocarboxylase synthetase (biotin-(propionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)
- KCNE1: potassium voltage-gated channel, Isk-related family, member 1
- KCNE2: potassium voltage-gated channel, Isk-related family, member 2
- LAD: leukocyte adhesion deficiency (symbols are ITGB2, CD18, LCAMB)
- SOD1: superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))
- TMPRSS3: transmembrane protease, serine 3
- PCNT: centrosomal pericentrin
- DSCR1: Down Syndrome critical region 1[5]
- DYRK1A: dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
- RRP1B: ribosomal RNA processing 1 homolog B
- S100B: calcium binding protein
Diseases and disorders
The following diseases are some of those related to genes on chromosome 21:
- Alzheimer's disease[4]
- Alzheimer's disease type 1
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 1
- Autoimmune polyendocrine syndrome
- Autoimmune polyendocrine syndrome type 1
- Down syndrome
- Erondu–Cymet syndrome
- Holocarboxylase synthetase deficiency
- Homocystinuria
- Jervell and Lange-Nielsen syndrome
- Leukocyte adhesion deficiency
- Majewski osteodysplastic primordial dwarfism type II (MOPD II, or MOPD2)
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal recessive
- Romano–Ward syndrome
Chromosomal conditions
Translocation Down's syndrome affecting Chromosome 21
The following conditions are caused by changes in the structure or number of copies of chromosome 21:
- Cancers: Rearrangements (translocations) of genetic material between chromosome 21 and other chromosomes have been associated with several types of cancer. For example, acute lymphoblastic leukemia (a type of blood cancer most often diagnosed in childhood) has been associated with a translocation between chromosomes 12 and 21. Another form of leukemia, acute myeloid leukemia, has been associated with a translocation between chromosomes 8 and 21.
- In a small percentage of cases, Down syndrome is caused by a rearrangement of chromosomal material between chromosome 21 and another chromosome. As a result, a person has the usual two copies of chromosome 21, plus extra material from chromosome 21 attached to another chromosome. These cases are called translocation Down syndrome. Researchers believe that extra copies of genes on chromosome 21 disrupt the course of normal development, causing the characteristic features of Down syndrome and the increased risk of medical problems associated with this disorder.
- Other changes in the number or structure of chromosome 21 can have a variety of effects, including intellectual disability, delayed development, and characteristic facial features. In some cases, the signs and symptoms are similar to those of Down syndrome. Changes to chromosome 21 include a missing segment of the chromosome in each cell (partial monosomy 21) and a circular structure called ring chromosome 21. A ring chromosome occurs when both ends of a broken chromosome are reunited.
- Duplication in Amyloid precursor protein (APP) locus (duplicated segment varies in length but includes APP) on Chromosome 21 was found to cause early onset familial Alzheimer's disease in a French family set (Rovelet-Lecrux et al.) and a Dutch family set.[4] Compared to Alzheimer's caused by missense mutations in APP, the frequency of the Alzheimer's caused by APP duplications is significant. All patients that have an extra copy of APP gene due to the locus duplication show Alzheimer's with severe cerebral amyloid angiopathy.
References
- ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
- ^ "Map Viewer". National Center for Biotechnology Information. Retrieved November 17, 2013.
- ^ "Vega Genome Browser 54: Homo sapiens - Chromosome summary - Chromosome 21: 1-48,119,895". Wellcome Trust Sanger Institute. Retrieved November 17, 2013.
- ^ a b c Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, Wauters J, Del-Favero J, Cruts M, van Duijn CM, Van Broeckhoven C (2006). "APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy". Brain. 129 (Pt 11): 2977–83. doi:10.1093/brain/awl203. PMID 16921174.
- ^ Gardiner K, Davisson M (2000). "The sequence of human chromosome 21 and implications for research into Down syndrome". Genome Biol. 1 (2): REVIEWS0002. doi:10.1186/gb-2000-1-2-reviews0002. PMC 138845. PMID 11178230.
- Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S (2004). "Chromosome 21 and down syndrome: from genomics to pathophysiology". Nat Rev Genet. 5 (10): 725–38. doi:10.1038/nrg1448. PMID 15510164.
- Antonarakis SE, Lyle R, Deutsch S, Reymond A (2002). "Chromosome 21: a small land of fascinating disorders with unknown pathophysiology". Int J Dev Biol. 46 (1): 89–96. PMID 11902692.
- Antonarakis SE (2001). "Chromosome 21: from sequence to applications". Curr Opin Genet Dev. 11 (3): 241–6. doi:10.1016/S0959-437X(00)00185-4. PMID 11377958.
- Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 21". Genet Test. 1 (4): 301–6. doi:10.1089/gte.1997.1.301. PMID 10464663.
- Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
- Sawinska M, Ladon D (2004). "Mechanism, detection and clinical significance of the reciprocal translocation t(12;21)(p12;q22) in the children suffering from acute lymphoblastic leukaemia". Leuk Res. 28 (1): 35–42. doi:10.1016/S0145-2126(03)00160-7. PMID 14630078.
- Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, Campion D (2005). "APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy". Nature Genetics. 38 (1): 24–6. doi:10.1038/ng1718. PMID 16369530.
- Anita Rauch; Christian T. Thiel; Detlev Schindler; Ursula Wick; Yanick J. Crow; Arif B. Ekici; Anthonie J. van Essen; Timm O. Goecke; Lihadh Al-Gazali; Krystyna H. Chrzanowska; Christiane Zweier; Han G. Brunner; Kristin Becker; Cynthia J. Curry; Bruno Dallapiccola; Koenraad Devriendt; Arnd Dörfler; Esther Kinning; André Megarbane; Peter Meinecke; Robert K. Semple; Stephanie Spranger; Annick Toutain; Richard C. Trembath; Egbert Voss; Louise Wilson; Raoul Hennekam; Francis de Zegher; Helmut-Günther Dörr; André Reis (2008). "Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism". Science Online: 7.
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Wikimedia Commons has media related to Human chromosome 21. |
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Human chromosomes
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| Autosome |
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
- 10
- 11
- 12
- 13
- 14
- 15
- 16
- 17
- 18
- 19
- 20
- 21
- 22
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| Sex chromosome |
- X
- Y
- Pseudoautosomal region
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UpToDate Contents
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English Journal
- Altered regulation of tau phosphorylation in a mouse model of down syndrome aging.
- Sheppard O, Plattner F, Rubin A, Slender A, Linehan JM, Brandner S, Tybulewicz VL, Fisher EM, Wiseman FK.SourceUniversity College London Institute of Neurology, London, UK.
- Neurobiology of aging.Neurobiol Aging.2012 Apr;33(4):828.e31-44. Epub 2011 Aug 16.
- Down syndrome (DS) results from trisomy of human chromosome 21 (Hsa21) and is associated with an increased risk of Alzheimer's disease (AD). Here, using the unique transchromosomic Tc1 mouse model of DS we investigate the influence of trisomy of Hsa21 on the protein tau, which is hyperphosphorylated
- PMID 21843906
- Molecular basis of maternal age-related increase in oocyte aneuploidy.
- Kurahashi H, Tsutsumi M, Nishiyama S, Kogo H, Inagaki H, Ohye T.SourceDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.
- Congenital anomalies.Congenit Anom (Kyoto).2012 Mar;52(1):8-15. doi: 10.1111/j.1741-4520.2011.00350.x.
- Aneuploidy is one of the most common and serious pregnancy complications in humans. Most conceptuses with autosomal aneuploidy die in utero, resulting in early pregnancy loss. However, some fetuses with aneuploidy survive to term but suffer from disorders associated with congenital anomalies and men
- PMID 22348779
Japanese Journal
- A study of single nucleotide polymorphisms of the SLC19A1/RFC1 gene in subjects with autism spectrum disorder
- Systematic Cellular Disease Models Reveal Synergistic Interaction of Trisomy 21 and GATA1 Mutations in Hematopoietic Abnormalities
- Species identification of Phagocata sibirica collected from Mt. Changbai water system in China
- Shirakami-sanchi : bulletin of the Shirakami Institute for Environmental Sciences, Hirosaki University 5, 17
- NAID 40020859054
Related Links
- Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs. Chromosome 21 is the smallest human ...
- Scientific Overview Group leader: Dr. Marie-Laure Yaspo The group was originally focused on functional genomics studies of chromosome 21 genes (The Chromosome 21 mapping and sequencing consortium, Nature 2000) and ...
Related Pictures
★リンクテーブル★
[★]
- 英
- chromosome 21
- 関
- 第21番染色体、第21染色体
[★]
- 英
- chromosome 21
- 関
- 第21番染色体、21番染色体
[★]
- 英
- chromosome 21
- 関
- 第21染色体、21番染色体