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）』「2015/08/11 22:53:21」(JST)
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| Chromosome 2 (human) |
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Human chromosome 2 pair after G-banding.
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Chromosome 2 pair in human male karyogram.
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| Features |
| Length (bp) |
242,193,529 bp |
| Number of genes |
2,787 |
| Type |
Autosome |
| Centromere position |
Submetacentric [1] |
| Identifiers |
| RefSeq |
NC_000002 |
| GenBank |
CM000664 |
Fusion of ancestral chromosomes left distinctive remnants of telomeres, and a vestigial centromere
Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 242 million base pairs [2] (the building material of DNA) and representing almost 8% of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 2 likely contains 1,491 genes, including those of the HOXD homeobox gene cluster.[3]
Contents
- 1 Evolution
- 2 Genes
- 3 Related diseases and traits
- 4 References
Evolution
Further information: Chimpanzee genome project
All members of Hominidae except humans, Neanderthals, and Denisovans have 24 pairs of chromosomes.[4] Humans have only 23 pairs of chromosomes. Human chromosome 2 is widely accepted to be a result of an end-to-end fusion of two ancestral chromosomes.[5][6]
The evidence for this includes:
- The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the chimpanzee, has near-identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant gorilla and orangutan.[7][8]
- The presence of a vestigial centromere. Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere.[9]
- The presence of vestigial telomeres. These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the middle.[10]
Chromosome 2 is consistent with the common ancestry of humans and other apes. According to researcher J. W. IJdo, "We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2." [10]
Genes
Among the genes located on chromosome 2 are these:
- AGXT: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- COL3A1: collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- COL4A4: collagen, type IV, alpha 4
- COL5A2: collagen, type V, alpha 2
- CTLA4: cytotoxic T-Lymphocyte Antigen 4
- HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
- HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
- NCL: Nucleolin
- NR4A2: nuclear receptor subfamily 4, group A, member 2
- OTOF: otoferlin
- PAX3: paired box gene 3 (Waardenburg syndrome 1)
- PAX8: paired box gene 8
- PELI1: Ubiquitin ligase
- SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
- SSB: Sjogren syndrome antigen B
- TPO: thyroid peroxidase
- TTN: titin
Genes located on the short arm of this chromosome include
- ALMS1
- ABCG5 and ABCG8: ATP-binding cassette, subfamily A, members 5 and 8
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSH6: mutS homolog 6 (E. coli)
- TTC7A: familial multiple intestinal atresia
- WDR35 (IFT121: TULP4): intraflagellar transport 121
Genes located on the long arm of this chromosome include
- ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
- BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
- TBR1: T-box, brain, 1
Related diseases and traits
The following diseases and traits are related to genes located on chromosome 2:
- 2p15-16.1 microdeletion syndrome
- Autism
- Alport syndrome
- Alström syndrome
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis, type 2
- Congenital hypothyroidism
- Crigler-Najjar types I/II
- Dementia with Lewy bodies
- Ehlers–Danlos syndrome
- Ehlers–Danlos syndrome, classical type
- Ehlers–Danlos syndrome, vascular type
- Fibrodysplasia ossificans progressiva
- Gilbert's Syndrome
- Harlequin type ichthyosis
- Hemochromatosis
- Hemochromatosis, type 4
- Hereditary nonpolyposis colorectal cancer
- Infantile-onset ascending hereditary spastic paralysis
- Juvenile primary lateral sclerosis
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Maturity onset diabetes of the young type 6
- Mitochondrial trifunctional protein deficiency
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal recessive
- Primary hyperoxaluria
- Primary pulmonary hypertension
- Sitosterolemia (knockout of either ABCG5 or ABCG8)
- Sensenbrenner syndrome
- Synesthesia
- Waardenburg syndrome
References
- ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
- ^ Hillier et al. (2005). "Generation and annotation of the DNAD sequences of human chromosomes 2 and 4". Nature 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
- ^ Vega Homo sapiens genome browser: HoxD cluster on Chromosome 2
- ^ Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, Schraiber JG, Jay F, Prüfer K, de Filippo C, Sudmant PH, Alkan C, Fu Q, Do R, Rohland N, Tandon A, Siebauer M, Green RE, Bryc K, Briggs AW, Stenzel U, Dabney J, Shendure J, Kitzman J, Hammer MF, Shunkov MV, Derevianko AP, Patterson N, Andrés AM, Eichler EE, Slatkin M, Reich D, Kelso J, Pääbo S; Kircher; Gansauge; Li; Racimo; Mallick; Schraiber; Jay; Prüfer; De Filippo; Sudmant; Alkan; Fu; Do; Rohland; Tandon; Siebauer; Green; Bryc; Briggs; Stenzel; Dabney; Shendure; Kitzman; Hammer; Shunkov; Derevianko; Patterson; Andrés et al. (October 2012). "A high-coverage genome sequence from an archaic Denisovan individual". Science 338 (6104): 222–6. Bibcode:2012Sci...338..222M. doi:10.1126/science.1224344. PMC 3617501. PMID 22936568.
- ^ Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew; accessed 18 May 2006.
- ^ Evidence of Common Ancestry: Human Chromosome 2 (video) 2007
- ^ Yunis and Prakash; Prakash, O (1982). "The origin of man: a chromosomal pictorial legacy". Science 215 (4539): 1525–30. Bibcode:1982Sci...215.1525Y. doi:10.1126/science.7063861. PMID 7063861.
- ^ Human and Ape Chromosomes; accessed 8 September 2007.
- ^ Avarello et al. (1992). "Evidence for an ancestral alphoid domain on the long arm of human chromosome 2". Human Genetics 89 (2): 247–9. doi:10.1007/BF00217134. PMID 1587535.
- ^ a b IJdo et al. (1991). "Origin of human chromosome 2: an ancestral telomere-telomere fusion". Proc. Natl. Acad. Sci. U.S.A. 88 (20): 9051–5. Bibcode:1991PNAS...88.9051I. doi:10.1073/pnas.88.20.9051. PMC 52649. PMID 1924367.
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Wikimedia Commons has media related to Human chromosome 2. |
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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
|
|
| Sex chromosome |
- X
- Y
- Pseudoautosomal region
|
|
UpToDate Contents
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English Journal
- Fine mapping of the qLOP2 and qPSR2-1 loci associated with chilling stress tolerance of wild rice seedlings.
- Xiao N1, Huang WN, Li AH, Gao Y, Li YH, Pan CH, Ji H, Zhang XX, Dai Y, Dai ZY, Chen JM.
- TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik.Theor Appl Genet.2014 Nov 4. [Epub ahead of print]
- KEY MESSAGE: Using leaf osmotic potential and plant survival rate as chilling-tolerant trait indices, we identified two major quantitative trait loci qLOP2 and qPSR2 - 1 (39.3-kb region) and Os02g0677300 as the cold-inducible gene for these loci. Chilling stress tolerance (CST) at the seedling stage
- PMID 25367381
- Combined correlation-based network and mQTL analyses efficiently identified loci for branched chain amino acid, serine to threonine, and proline metabolism in tomato seeds.
- Toubiana D1, Batushansky A, Tzfadia O, Scossa F, Khan A, Barak S, Zamir D, Fernie AR, Nikoloski Z, Fait A.
- The Plant journal : for cell and molecular biology.Plant J.2014 Oct 31. doi: 10.1111/tpj.12717. [Epub ahead of print]
- Correlation-based network analysis (CNA) of the metabolic profiles of seeds of a tomato Introgression Line mapping population revealed a clique of proteinogenic amino acids: Gly, Ile, Pro, Ser, Thr, and Val. Correlations between profiles of these amino acids exhibited a statistically significant ave
- PMID 25359542
- Genome-wide QTL mapping of nine body composition and bone mineral density traits in pigs.
- Rothammer S, Kremer PV, Bernau M, Fernandez-Figares I, Pfister-Schär J, Medugorac I1, Scholz AM.
- Genetics, selection, evolution : GSE.Genet Sel Evol.2014 Oct 28;46(1):68. doi: 10.1186/s12711-014-0068-2.
- BACKGROUND: Since the pig is one of the most important livestock animals worldwide, mapping loci that are associated with economically important traits and/or traits that influence animal welfare is extremely relevant for efficient future pig breeding. Therefore, the purpose of this study was a geno
- PMID 25359100
Japanese Journal
- Identification of Sex Chromosomes by Means of Comparative Genomic Hybridization in a Lizard, Eremias multiocellata
- Wang Cui,Tang Xiaolong,Xin Ying [他]
- Zoological science 32(2), 151-156, 2015-04
- NAID 40020424342
- INTEGRATED NETWORK DESIGN FOR COLLABORATIVE COURIER SERVICES
- FERDINAND FRISKA NATALIA,KIM YOUNG JIN,KO CHANG SEONG
- ICIC express letters. Part B, Applications : an international journal of research and surveys 6(4), 989-995, 2015-04
- NAID 40020355557
- メモリ効率の良い<i>de novo</i>アセンブリアルゴリズム
- 遠藤 友基,外山 史,千葉 親文,森 博志,東海林 健二
- 情報処理学会研究報告. BIO, バイオ情報学 2015-BIO-41(6), 1-6, 2015-03-13
- 本論文では,次世代シーケンサから得られた大量のデータに対して,大規模なゲノムのアセンブリが可能となるように,消費メモリ量の少ない de novo アセンブリアルゴリズムを提案する.実験では,E. coli K-12 strain MG1655 及びヒトの 14 番染色体から得られたリードに対してアセンブリを行った.その結果,本手法は E. coli に対しては従来手法の約 20%,ヒト 14 番染 …
- NAID 110009884011
Related Links
- Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 243 million base pairs (the building ...
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