词条 | Chromosome 15 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
释义 |
| image = Human male karyotpe high resolution - Chromosome 15 cropped.png | caption = Human chromosome 15 pair after G-banding. One is from mother, one is from father. | image2 = Human male karyotpe high resolution - Chromosome 15.png | caption2 = Chromosome 15 pair in human male karyogram. | length_bp =101,991,189 bp (GRCh38)[1] | genes = 561 (CCDS)[2] | type = Autosome | centromere_position = Acrocentric[2] (19.0 Mbp[3]) | chr = 15 | ensembl_id = 15 | entrez_id = 15 | ncbi_id = 15 | ucsc_id = 15 | refseq_id = NC_000015 | genbank_id = CM000677 }} Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 101 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA in cells. The human leukocyte antigen gene for β2-microglobulin is found at chromosome 15. GenesNumber of genesThe following are some of the gene count estimates of human chromosome 15. 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.[4]
Gene list{{Category see also|Genes on human chromosome 15}}The following is a partial list of genes on human chromosome 15. For complete list, see the link in the infobox on the right. {{columns-list|
}} Chromosomal conditionsThe following conditions are caused by mutations in chromosome 15. Two of the conditions (Angelman syndrome and Prader-Willi syndrome) involve a loss of gene activity in the same part of chromosome 15, the 15q11.2-q13.1 region. This discovery provided the first evidence in humans that something beyond genes could determine how the genes are expressed.[12] Angelman syndrome{{main|Angelman syndrome}}The main characteristics of Angelman syndrome are severe mental retardation, ataxia, lack of speech, and excessively happy demeanor. Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region. This region contains a gene called UBE3A that, when mutated or absent, likely causes the characteristic features of this condition. People normally have two copies of the UBE3A gene, one from each parent. Both copies of this gene are active in many of the body's tissues. In the brain, however, only the copy inherited from a person's mother (the maternal copy) is active. If the maternal copy is lost because of a chromosomal change or a gene mutation, a person will have no working copies of the UBE3A gene in the brain. In most cases (about 70%){{Citation needed|date=September 2009}}, people with Angelman syndrome have a deletion in the maternal copy of chromosome 15. This chromosomal change deletes the region of chromosome 15 that includes the UBE3A gene. Because the copy of the UBE3A gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a deletion in the maternal chromosome 15 results in no active copies of the UBE3A gene in the brain. In 3% to 7% of cases,{{Citation needed|date=September 2009}} Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 instead of one copy from each parent. This phenomenon is called paternal uniparental disomy (UPD). People with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited from the father and are therefore inactive in the brain. About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, and another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. In a small percentage of cases, Angelman syndrome may be caused by a chromosomal rearrangement called a translocation or by a mutation in a gene other than UBE3A. These genetic changes can abnormally inactivate the UBE3A gene. Angelman syndrome can be hereditary, as evidenced by one case where a patient became pregnant with a daughter who also had the condition.[13] Prader-Willi syndrome{{main|Prader-Willi syndrome}}The main characteristics of this condition include polyphagia (extreme, insatiable appetite), mild to moderate developmental delay, hypogonadism resulting in delayed to no puberty, and hypotonia. Prader-Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11-q13 region. People normally have two copies of this chromosome in each cell, one copy from each parent. Prader-Willi syndrome occurs when the paternal copy is partly or entirely missing. In about 70% of cases,{{Citation needed|date=September 2009}} Prader-Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted. The genes in this region are normally active on the paternal copy of the chromosome and are inactive on the maternal copy. Therefore, a person with a deletion in the paternal chromosome 15 will have no active genes in this region. In about 25% of cases, a person with Prader-Willi syndrome has two maternal copies of chromosome 15 in each cell instead of one copy from each parent. This phenomenon is called maternal uniparental disomy. Because some genes are normally active only on the paternal copy of this chromosome, a person with two maternal copies of chromosome 15 will have no active copies of these genes. In a small percentage of cases, Prader-Willi syndrome is not caused by a chromosomal rearrangement called a trans location. Rarely, the condition is caused by an abnormality in the DNA region that controls the activity of genes on the paternal chromosome 15. Because patients almost always have difficulty reproducing, Prader-Willi syndrome is generally not hereditary. Isodicentric chromosome 15{{main|Isodicentric 15}}A specific chromosomal change called an isodicentric chromosome 15 (IDIC15) (also known by a number of [https://www.dup15q.org/understanding-dup15q/why-is-it-called-dup15q-syndrome/ other names]) can affect growth and development. The patient possesses an "extra" or "marker" chromosome. This small extra chromosome is made up of genetic material from chromosome 15 that has been abnormally duplicated (copied) and attached end-to-end. In some cases, the extra chromosome is very small and has no effect on a person's health. A larger isodicentric chromosome 15 can result in weak muscle tone (hypotonia), mental retardation, seizures, and behavioral problems.[14] Signs and symptoms of autism (a developmental disorder that affects communication and social interaction) have also been associated with the presence of an isodicentric chromosome 15. Other chromosomal conditionsOther changes in the number or structure of chromosome 15 can cause mental retardation, delayed growth and development, hypotonia, and characteristic facial features.{{Citation needed|date=September 2009}} These changes include an extra copy of part of chromosome 15 in each cell (partial trisomy 15) or a missing segment of the chromosome in each cell (partial monosomy 15). In some cases, several of the chromosome's DNA building blocks (nucleotides) are deleted or duplicated. The following diseases are some of those related to genes on chromosome 15:{{Citation needed|date=September 2009}}
Cytogenetic band{{multiple image| header = G-banding ideograms of human chromosome 15 | total_width = 400 | image1 = Human chromosome 15 ideogram vertical.svg | width1 = 216 | height1= 1125 | caption1 = G-banding ideogram of human chromosome 15 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 15 - 400 550 850 bphs.png | width2 = 1003 | height2= 2801 | caption2 = G-banding patterns of human chromosome 15 in three different resolutions (400,[15] 550[16] and 850[17]). Band length in this diagram is based on the ideograms from ISCN (2013).[18] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[19] }}
References{{More footnotes|date=September 2009}}Specific references: 1. ^{{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 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 }} 5. ^1 {{cite web | title=Search results – 15[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=15%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}} 6. ^{{cite web | title=Statistics & Downloads for chromosome 15 | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/statistics?c=15 |date=2017-05-12 | accessdate=2017-05-19}} 7. ^{{cite web | title=Chromosome 15: Chromosome summary – Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=15 |date=2017-03-29 | accessdate=2017-05-19}} 8. ^{{cite web | title=Human chromosome 15: entries, gene names and cross-references to MIM | website= UniProt | url=https://www.uniprot.org/docs/humchr15.txt |date=2018-02-28 | accessdate=2018-03-16}} 9. ^{{cite web | title=Search results – 15[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=15%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}} 10. ^{{cite web | title=Search results – 15[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=15%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}} 11. ^{{cite web | title=Search results – 15[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=15%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}} 12. ^{{cite web| title=Teacher's Guide | url=https://www.pbs.org/wgbh/nova/teachers/programs/3413_genes.html |publisher=Nova (TV series)| work=Ghost in Your Genes (season 35) | date=October 16, 2007 | accessdate=2009-09-26 | quote=The program...recounts how one scientist determined how the deletion of a key sequence of DNA on human chromosome 15 could lead to two different syndromes depending on whether the deletion originated from the mother or the father [and] explains that this was the first human evidence that something other than genes themselves could determine how genes are expressed.}} 13. ^{{cite journal | vauthors = Lossie A, Driscoll D | title = Transmission of Angelman syndrome by an affected mother | journal = Genet Med | volume = 1 | issue = 6 | pages = 262–6 | year = 1999| pmid = 11258627 | doi = 10.1097/00125817-199909000-00004}} 14. ^{{Cite web|url=http://www.dup15q.org/understanding-dup15q/what-is-dup15q-syndrome/|title=What is Dup15q Syndrome? – Dup15q|website=www.dup15q.org|language=en|access-date=2017-09-05}} 15. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26. 16. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26. 17. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26. 18. ^{{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}} 19. ^{{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}} 20. ^Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26. 21. ^"p": Short arm; "q": Long arm. 22. ^For cytogenetic banding nomenclature, see article locus. 23. ^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. 24. ^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. General references: {{refbegin}}
External links{{Commons category|Human chromosome 15}}
2 : Chromosomes (human)|Genes on human chromosome 15 |
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