词条 | Chromosome 21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
释义 |
| image = Human male karyotpe high resolution - Chromosome 21 cropped.png | caption = Human chromosome 21 pair after G-banding. One is from mother, one is from father. | image2 = Human male karyotpe high resolution - Chromosome 21.png | caption2 = Chromosome 21 pair in human male karyogram. | length_bp = 46,709,983 bp (GRCh38)[1] | genes = 215 (CCDS)[2] | type = Autosome | centromere_position = Acrocentric[2] (12.0 Mbp[3]) | chr = 21 | ensembl_id = 21 | entrez_id = 21 | ncbi_id = 21 | ucsc_id = 21 | refseq_id = NC_000021 | genbank_id = CM000683 }} Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome,[4] with 48 million nucleotides (the building material of DNA) representing about 1.5 percent of the total DNA in cells. Most people have two copies of chromosome 21, while those with three copies of chromosome 21 have Down syndrome, also called "trisomy 21". Researchers working on the Human Genome Project announced in May 2000 that they had determined the sequence of base pairs that make up this chromosome.[5] Chromosome 21 was the second human chromosome to be fully sequenced, after chromosome 22. GenesNumber of genesThe following are some of the gene count estimates of human chromosome 21. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[6]
Gene list{{Category see also|Genes on human chromosome 21}}The following is a partial list of genes on human chromosome 21. For complete list, see the link in the infobox on the right. {{columns-list|
}} Diseases and disordersThe following diseases are some of those related to genes on chromosome 21:
Chromosomal conditionsThe following conditions are caused by changes in the structure or number of copies of chromosome 21:
Cytogenetic band{{multiple image| header = G-banding ideograms of human chromosome 21 | total_width = 400 | image1 = Human chromosome 21 ideogram vertical.svg | width1 = 216 | height1= 1125 | caption1 = G-banding ideogram of human chromosome 21 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser). | image2 = Human chromosome 21 - 400 550 850 bphs.png | width2 = 1003 | height2= 2801 | caption2 = G-banding patterns of human chromosome 21 in three different resolutions (400,[16] 550[17] and 850[18]). Band length in this diagram is based on the ideograms from ISCN (2013).[19] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[20] }}
References1. ^{{cite web | title=Human Genome Assembly GRCh38 - Genome Reference Consortium | website=National Center for Biotechnology Information | date=2013-12-24 | url=https://www.ncbi.nlm.nih.gov/grc/human/data?asm=GRCh38 | language=en | accessdate=2017-03-04}} 2. ^{{cite book|author1=Tom Strachan|author2=Andrew Read|title=Human Molecular Genetics|url=https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45|date=2 April 2010|publisher=Garland Science|isbn=978-1-136-84407-2|page=45}} 3. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26. 4. ^{{cite web | url=https://ghr.nlm.nih.gov/chromosome/21 | title=Chromosome 21}} 5. ^{{Cite journal | doi=10.1038/35012518|pmid = 10830953| title=The DNA sequence of human chromosome 21| journal=Nature| volume=405| issue=6784| pages=311–319| year=2000| last1=Hattori| first1=M.| last2=Fujiyama| first2=A.| last3=Taylor| first3=T. D.| last4=Watanabe| first4=H.| last5=Yada| first5=T.| last6=Park| first6=H.-S.| last7=Toyoda| first7=A.| last8=Ishii| first8=K.| last9=Totoki| first9=Y.| last10=Choi| first10=D.-K.| last11=Soeda| first11=E.| last12=Ohki| first12=M.| last13=Takagi| first13=T.| last14=Sakaki| first14=Y.| last15=Taudien| first15=S.| last16=Blechschmidt| first16=K.| last17=Polley| first17=A.| last18=Menzel| first18=U.| last19=Delabar| first19=J.| last20=Kumpf| first20=K.| last21=Lehmann| first21=R.| last22=Patterson| first22=D.| last23=Reichwald| first23=K.| last24=Rump| first24=A.| last25=Schillhabel| first25=M.| last26=Schudy| first26=A.| last27=Zimmermann| first27=W.| last28=Rosenthal| first28=A.| last29=Kudoh| first29=J.| last30=Shibuya| first30=K.| displayauthors=29}} 6. ^{{cite journal| author=Pertea M, Salzberg SL| title=Between a chicken and a grape: estimating the number of human genes. | journal=Genome Biol | year= 2010 | volume= 11 | issue= 5 | pages= 206 | pmid=20441615 | doi=10.1186/gb-2010-11-5-206 | pmc=2898077 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20441615 }} 7. ^1 {{cite web | title=Search results - 21[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene | website= NCBI |version = CCDS Release 20 for Homo sapiens | url=https://www.ncbi.nlm.nih.gov/gene?term=21%5BChr%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22has%20ccds%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch |date=2016-09-08 | accessdate=2017-05-28}} 8. ^{{cite web | title=Statistics & Downloads for chromosome 21 | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/statistics?c=21 |date=2017-05-12 | accessdate=2017-05-19}} 9. ^{{cite web | title=Chromosome 21: Chromosome summary - Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=21 |date=2017-03-29 | accessdate=2017-05-19}} 10. ^{{cite web | title=Human chromosome 21: entries, gene names and cross-references to MIM | website= UniProt | url=https://www.uniprot.org/docs/humchr21.txt |date=2018-02-28 | accessdate=2018-03-16}} 11. ^{{cite web | title=Search results - 21[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=21%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}} 12. ^{{cite web | title=Search results - 21[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=21%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%28%22genetype%20miscrna%22%5BProperties%5D%20OR%20%22genetype%20ncrna%22%5BProperties%5D%20OR%20%22genetype%20rrna%22%5BProperties%5D%20OR%20%22genetype%20trna%22%5BProperties%5D%20OR%20%22genetype%20scrna%22%5BProperties%5D%20OR%20%22genetype%20snrna%22%5BProperties%5D%20OR%20%22genetype%20snorna%22%5BProperties%5D%29%20NOT%20%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}} 13. ^{{cite web | title=Search results - 21[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=21%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20pseudo%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}} 14. ^1 2 {{cite journal | vauthors= Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, Wauters J, Del-Favero J, Cruts M, van Duijn CM, Van Broeckhoven C | title=APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy | journal= Brain | year=2006 | pages= 2977–83| volume= 129| issue= Pt 11| pmid=16921174 | doi=10.1093/brain/awl203}} 15. ^{{cite journal | vauthors=Gardiner K, Davisson M | title=The sequence of human chromosome 21 and implications for research into Down syndrome | journal=Genome Biol | year=2000 | pages=REVIEWS0002 | volume=1 | issue=2 | pmid=11178230 | doi=10.1186/gb-2000-1-2-reviews0002 | pmc=138845}} 16. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26. 17. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26. 18. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26. 19. ^{{cite book|author=International Standing Committee on Human Cytogenetic Nomenclature|title=ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)|url=https://books.google.com/books?id=lGCLrh0DIwEC|year=2013|publisher=Karger Medical and Scientific Publishers|isbn=978-3-318-02253-7}} 20. ^{{cite journal|last1=Sethakulvichai|first1=W.|last2=Manitpornsut|first2=S.|last3=Wiboonrat|first3=M.|last4=Lilakiatsakun|first4=W.|last5=Assawamakin|first5=A.|last6=Tongsima|first6=S.|title=Estimation of band level resolutions of human chromosome images|year=2012|pages=276–282|journal=In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on|doi=10.1109/JCSSE.2012.6261965|url=https://www.researchgate.net/profile/Anunchai_Assawamakin/publication/261304470_Estimation_of_band_level_resolutions_of_human_chromosome_images/links/5459f7ff0cf2cf516483fffd/Estimation-of-band-level-resolutions-of-human-chromosome-images.pdf|isbn=978-1-4673-1921-8}} 21. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26. 22. ^"p": Short arm; "q": Long arm. 23. ^For cytogenetic banding nomenclature, see article locus. 24. ^1 These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit. 25. ^gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
| title=APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy | journal=Nature Genetics | year=2005 | pages= 24–6| volume= 38| issue= 1| pmid=16369530 | doi=10.1038/ng1718}}
| title=Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism| journal=Science Online| year=2008 | pages= 7| volume= | issue= | id=}} External links{{Commons category|Human chromosome 21}}
2 : Chromosomes (human)|Genes on human chromosome 21 |
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