ナイミーヘン症候群、ナイミーヘン染色体不安定症候群、Nijmegen染色体不安定症候群
- 関
- NBS
WordNet
- reimbursement for goods damaged while in transit or in use
- the quantity broken; "the total breakage was huge"
- the act of breaking something; "the breakage was unavoidable" (同)break, breaking
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- an industrial city in the eastern Netherlands
PrepTutorEJDIC
- National Bureau of Standards(米国)規格基準局
- 〈U〉破損;〈C〉破損箇所 / 破損量 / 〈C〉《通例複数形で》《英》破損物 / 〈C〉破損額
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/02/07 18:20:11」(JST)
[Wiki en表示]
| Nijmegen breakage syndrome |
| Classification and external resources |
| OMIM |
251260 |
| DiseasesDB |
32395 |
| eMedicine |
derm/725 |
| NCI |
Nijmegen breakage syndrome |
| MeSH |
D049932 |
Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a rare autosomal recessive[1] congenital disorder causing chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism.
NBS1 codes for a protein that has two major functions: (1) to stop the cell cycle in the S phase, when there are errors in the cell DNA (2) to interact with FANCD2 that can activate the BRCA1/BRCA2 pathway of DNA repair. This explains clearly that mutations in the NBS1 gene lead to higher levels of cancer (see Fanconi anemia, Cockayne syndrome...)
The name derives from the Dutch city Nijmegen where the condition was first described.[2]
Most people with NBS have West Slavic origins. The largest number of them live in Poland.
Dr Seemanová MD, after whom the name of the syndrome was named, currently works at Motol Hospital, Prague, Czech Republic, as a professor of medical genetics.
Contents
- 1 Characteristics
- 2 Cause and Genetics
- 3 References
- 4 External links
Characteristics
It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity and a strong predisposition to lymphoid malignancy.[3][4]
Cause and Genetics
Nijmegen breakage syndrome has an autosomal recessive pattern of inheritance.
NBS is caused by a mutation in the NBS1 gene, located at human chromosome 8q21.[5][6] The disease is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
References
- ^ a b Cheung, V. G.; Ewens, W. J. (August 2006). "Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype". Genome Research (Free full text) 16 (8): 973–979. doi:10.1101/gr.5320706. PMC 1524869. PMID 16809669. edit
- ^ Weemaes CM, Hustinx TW, Scheres JM, van Munster PJ, Bakkeren JA, Taalman RD. (1981). "A new chromosomal instability disorder: the Nijmegen breakage syndrome". Acta Paediatr Scand 70 (4): 557–64. doi:10.1111/j.1651-2227.1981.tb05740.x. PMID 7315300.
- ^ Digweed M, Sperling K (2004). "Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks". DNA Repair (Amst) 3 (8-9): 1207–17. doi:10.1016/j.dnarep.2004.03.004. PMID 15279809.
- ^ "Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group". Arch Dis Child 82 (5): 400–6. 2000. doi:10.1136/adc.82.5.400. PMC 1718318. PMID 10799436. Full text
- ^ Iijima K, Komatsu K, Matsuura S, Tauchi H (2004). "The Nijmegen breakage syndrome gene and its role in genome stability". Chromosoma 113 (2): 53–61. doi:10.1007/s00412-004-0298-0. PMID 15258809.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 602667
External links
- nijmegen at NIH/UW GeneTests
- http://www.nijmegenbreakagesyndrome.net/homepage.htm
- Nijmegen Breakage Syndrome at NIH's Office of Rare Diseases
|
Metabolic disease: DNA replication and DNA repair-deficiency disorder
|
|
| DNA replication |
- Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4
- Termination/telomerase: DKC1
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| DNA repair |
| Nucleotide excision repair |
- Cockayne syndrome/DeSanctis–Cacchione syndrome
- Thymine dimer
- IBIDS syndrome
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| MSI/DNA mismatch repair |
- Hereditary nonpolyposis colorectal cancer
- Muir–Torre syndrome
- Mismatch repair cancer syndrome
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| MRN complex |
- Ataxia telangiectasia
- Nijmegen breakage syndrome
|
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| Other |
- RecQ helicase
- Bloom syndrome
- Werner syndrome
- Rothmund–Thomson syndrome/Rapadilino syndrome
- Fanconi anemia
- Li-Fraumeni syndrome
- Severe combined immunodeficiency
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See also: DNA replication, DNA repair
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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UpToDate Contents
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English Journal
- Haploinsufficiency of the Nijmegen breakage syndrome 1 gene increases mammary tumor latency and metastasis.
- Wan R, Crowe DL.SourceUniversity of Illinois Cancer Center, Chicago, IL 60612, USA.
- International journal of oncology.Int J Oncol.2012 Jul;41(1):345-52. doi: 10.3892/ijo.2012.1435. Epub 2012 Apr 19.
- Human diseases such as Nijmegen breakage syndrome due to mutations in the NBS1 gene result in defects in resection of double strand breaks. NBS1 functions as part of the MRN complex which functions in homologous recombination and non-homologous end joining. NBS is
- PMID 22576691
- A postulated role of p130 in telomere maintenance by human papillomavirus oncoprotein E7.
- Zhang W, Tian Y, Chen JJ, Zhao W, Yu X.SourceDepartment of Pathogenic Microbiology, Shandong University School of Medicine, Jinan, Shandong 250012, China.
- Medical hypotheses.Med Hypotheses.2012 May 15. [Epub ahead of print]
- High-risk human papillomaviruses (HR-HPVs) infections is highly associated with the development of cervical cancer. It is now recognized that telomere length maintenance or extension is indispensable for carcinogenesis. The early oncoproteins E6 and E7 are the main malignant transformation factors o
- PMID 22595804
Japanese Journal
- The Foci of DNA Double Strand Break-recognition Proteins Localize with γH2AX after Heat Treatment
- TAKAHASHI Akihisa,MORI Eiichiro,OHNISHI Takeo
- Journal of radiation research 51(1), 91-95, 2010-01-16
- … Recently, there have been many reports concerning proteins which can recognize DNA double strand break (DSBs), and such proteins include histone H2AX phosphorylated at serine 139 (γH2AX), ataxia telangiectasia mutated (ATM) phospho-serine 1981, DNA-dependent protein kinase catalytic subunit (DNA-PKcs) phospho-threonine 2609, Nijmegen breakage syndrome 1 (NBS1) phospho-serine 343, checkpoint kinase 2 (CHK2), phospho-threonine 68, and structural maintenance of chromosomes 1 (SMC1) phospho-serine 966. …
- NAID 10025914249
- DNA切断修復とナイミーヘン症候群 (染色体サイクル--ゲノムの恒常性維持,継承とダイナミクス) -- (染色体動態制御と疾患)
Related Links
- Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer ...
- Nijmegen breakage syndrome (NBS) is a rare autosomal recessive condition of chromosomal instability that is clinically characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency ...
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