17番染色体、第17染色体、第17番染色体

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）』「2016/03/04 13:32:06」(JST)

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Ideogram of human chromosome 17. Mbp means mega base pair. See locus for other notation.

Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% 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 17 likely contains between 1,200 and 1,500 genes. It also contains the Homeobox B gene cluster.

Genes

The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:

Several CC chemokines: CCL1, CCL2, CCL3, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, and CCL23

q-arm

GRB7: Growth factor Receptor-Bound protein 7 (17q12)
RHBDF2: Rhomboid family member 2 (17q25.3)
RPS6KB1 or S6K: Ribosomal protein S6-kinase (17q23.1)
CBX1: chromobox homolog 1 (17q21.32)
ACTG1: actin, gamma 1 (17q25)
BRCA1: breast cancer 1, early onset (17q21)
COL1A1: collagen, type I, alpha 1 (17q21.33)
ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (17q12)
GALK1: galactokinase 1 (17q24)
GFAP: glial fibrillary acidic protein (17q21)
KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)
MAPT gene coding for encoding tau protein (17q21.1)
NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (17q11.2)
NOG: Noggin protein (17q22)
SLC4A1: Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)
SLC6A4: Serotonin transporter linked to Obsessive Compulsive Disorder (OCD) ^[2] (17q11.2)
TMC6 and TMC8: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)
USH1G: Usher syndrome 1G (autosomal recessive) (17q25.1)
RARA or RAR-alpha: Retinoic acid receptor Alpha (involved in t(15,17) with PML) (17q21)

p-arm

SHBG: Sex hormone binding globulin (17p13.1)
ACADVL: acyl-coenzyme A dehydrogenase, very long chain (17p13.1)
ASPA: aspartoacylase (Canavan disease) (17p13.3)
CTNS: cystinosin, the lysosomal cystine transporter (17p13)
FLCN: folliculin (17p11.2)
MYO15A: myosin XVA (17p11.2)
PMP22: peripheral myelin protein 22 (17p12)
TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene (17p13.1)
RAI1: retinoic acid induced 1 (17p11.2)
USP6: Ubiquitin carboxyl-terminal hydrolase 6 linked to Aneurysmal bone cyst (17p13)

Diseases and disorders

The following diseases are related to genes on chromosome 17:

17Q21.31 Microdeletion Syndrome
Alexander disease
Andersen-Tawil syndrome
Birt-Hogg-Dubé syndrome
Bladder cancer
Breast cancer
Bruck syndrome
Camptomelic dysplasia
Canavan disease
Cerebroretinal microangiopathy with calcifications and cysts
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 1
Corticobasal degeneration
Cystinosis
Depression
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classical type
Epidermodysplasia verruciformis
Galactosemia
Glycogen storage disease type II (Pompe disease)
Hereditary neuropathy with liability to pressure palsies
Howel–Evans syndrome
Li-Fraumeni syndrome
Maturity onset diabetes of the young type 5
Miller-Dieker syndrome
Multiple synostoses syndrome
Neurofibromatosis type I
Nonsyndromic deafness
Nonsyndromic deafness, autosomal dominant
Nonsyndromic deafness, autosomal recessive
Osteogenesis imperfecta
Osteogenesis Imperfecta, Type I
Osteogenesis Imperfecta, Type II
Osteogenesis Imperfecta, Type III
Osteogenesis Imperfecta, Type IV
Potocki-Lupski syndrome
Proximal symphalangism
Smith-Magenis syndrome
Usher syndrome
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Aneurysmal bone cyst
Obsessive Compulsive Disorder

References

^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
^ "Obsessive Compulsive Disorder". An Online Catalog of Human Genes and Genetic Disorders.

Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test 2 (4): 357–81. doi:10.1089/gte.1998.2.357. PMID 10464617.

UpToDate Contents

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1. 前頭側頭型認知症：臨床的特徴および診断 frontotemporal dementia clinical features and diagnosis
2. Frontotemporal dementia: Epidemiology, pathology, and pathogenesis
3. 前頭側頭型認知症：治療 frontotemporal dementia treatment
4. 大脳皮質基底核変性症 corticobasal degeneration
5. 進行性核上性麻痺（PSP） progressive supranuclear palsy psp

English Journal

Stimulation of autophagy is neuroprotective in a mouse model of human tauopathy.

Schaeffer V, Goedert M.SourceMRC Laboratory of Molecular Biology; Cambridge UK.
Autophagy.Autophagy.2012 Nov 1;8(11). [Epub ahead of print]
The most common neurodegenerative diseases are characterized by the accumulation of misfolded proteins. Tauopathies, which include Alzheimer disease, progressive supranuclear palsy, corticobasal degeneration, Pick disease and cases of frontotemporal dementia and parkinsonism linked to chromosome 17,
PMID 22874558

Loss of dopaminoreceptive neuron causes L-dopa resistant parkinsonism in tauopathy.

Chiba S, Takada E, Tadokoro M, Taniguchi T, Kadoyama K, Takenokuchi M, Kato S, Suzuki N.SourceDepartment of Pathology and Cell Biology, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan; Department of Regenerative Medicine, St. Marianna University Graduate School of Medicine, Kawasaki, Japan.
Neurobiology of aging.Neurobiol Aging.2012 Oct;33(10):2491-505. Epub 2011 Dec 14.
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is a family of inherited dementias caused by tauopathy. A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism. The disease initially presents as L-dopa res
PMID 22169201

Japanese Journal

Hypoxia-Induced Reactive Oxygen Species Cause Chromosomal Abnormalities in Endothelial Cells in the Tumor Microenvironment

Kondoh Miyako,Ohga Noritaka,Akiyama Kosuke,Hida Yasuhiro,Maishi Nako,Towfik Alam Mohammad,Inoue Nobuo,Shindoh Masanobu,Hida Kyoko
Plos one 8(11), e80349, 2013-11-15
… Aneuploidy of the tumor-associated endothelial cells was also shown by simultaneous in-situ hybridization for chromosome 17 and by immunohistochemistry with anti-CD31 antibody for endothelial staining. …
NAID 120005367415

Prevotella intermediaのGroELとDnaKがバイオフィルム形成に及ぼす影響

堀池周司,山中武志,福島久典
歯科医学 76(2), 89-100, 2013-09-25
… strain 17の培養上清にはGroELが含まれることが確認された.バイオフィルムアッセイでは,培地に加えたrGroEL,rDnaKは,バイオフィルムを形成するstrain 17のバイオフィルム形成を完全に抑制した.逆に,バイオフィルムを形成しないstrain 17-2とATCC 25611は,これらのHSPs添加培地中で明瞭なバイオフィルム形成性を示した.rGroEL,rDnaKでコートしたプレート上では,strain 17-2のみ …
NAID 110009685608

急性骨髄性白血病の病型分類と染色体異常-東京女子医科大学病院血液内科の過去28年間300症例における解析-

岡田美智子,宇佐美明美,岡嶋香 [他],三浦裕子,兒玉聖子,志村華絵,田中紀奈,三橋健次郎,石山みどり,風間啓至,吉永健太郎,今井陽一,志関雅幸,森直樹,寺村正尚,泉二登志子,OKADA Michiko,USAMI Akemi,OKAJIMA Kaori,MIURA Hiroko,KODAMA Shoko,SHIMURA Hanae,TANAKA Norina,MITSUHASHI Kenjiro,ISHIYAMA Midori,KAZAMA Hiroshi,YOSHINAGA Kentaro,IMAI Yoichi,SHISEKI Masayuki,MORI Naoki,TERAMURA Masanao,MOTOJI Toshiko
東京女子医科大学雑誌 83(E2), E539-E547, 2013-03-31
… 症例の内訳はWHO分類で特定の遺伝子異常を有するAMLとして、t(8;21)が25例、t(15;17)が36例、inv(16)が8例、t(9;11)が2例、t(6;9)が1例あった。 … 染色体異常の内容は、これまでの報告例と大差なく、均衡型転座の付加的異常では、性染色体の欠失がt(8;21)に多く、+8、17番染色体異常、+21、+22などもみられた。 …
NAID 110009575063

「17番染色体」

Chromosome 17 (human)
	Pair of human chromosome 17 (after G-banding).; One is from mother, one is from father.
	Chromosome 17 pair in human male karyogram.
Features
Length (bp)	83,257,441
Number of genes	2,010
Type	Autosome
Centromere position	Submetacentric
Identifiers
RefSeq	NC_000017
GenBank	CM000679

　　[★]

英: chromosome 17
同: 第17番染色体、第17染色体

[show details]

第17番染色体 : 約 16,600 件
第17染色体 : 約 61,300 件
17番染色体 : 約 172,000 件

髄芽腫の細胞で異常が見られる (APT.488)
急性前骨髄球性白血病 APLでは染色体異常が見られる。t(15;17)(PML/RARα)

「frontotemporal dementia and parkinsonism linked to chromosome 17」

　　[★]

17番染色体に連鎖しパーキンソニズムを伴う前頭側頭型認知症

関: FTDP-17

「chromosome 17p13.3 deletion syndrome」

　　[★] ミラー・ディーカー症候群

[1] "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.

[2] "Obsessive Compulsive Disorder". An Online Catalog of Human Genes and Genetic Disorders.

リンク元	「17番染色体」
拡張検索	「frontotemporal dementia and parkinsonism linked to chromosome 17」「chromosome 17p13.3 deletion syndrome」

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案内

案内

chromosome 17