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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/02 04:14:00」(JST)

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Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.^[2] Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold for deposition of elastin.^[3]

Clinical aspect

Mutations in FBN1 and FBN2 are associated with adolescent idiopathic scoliosis .^[4]

Types

Fibrillin-1

Fibrillin-1 is a major component of the microfibrils that form a sheath surrounding the amorphous elastin. It is believed that the microfibrils are composed of end-to-end polymers of fibrillin. To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Engvall in 1986,^[5] and mutations in the FBN1 gene cause Marfan syndrome.^[6]

This protein is found in humans, and its genes are found on chromosome 15. At present more than 600 different mutations have been described.^[1]

Structure

There is no complete, high-resolution structure of fibrillin-1. Instead, short fragments have been produced recombinantly and their structures solved by X-ray crystallography or using NMR spectroscopy. A recent example is the structure of the fibrillin-1 hybrid2 domain, in context of its flanking calcium binding epidermal growth factor domains, which was determined using X-ray crystallography to a resolution of 1.8 Å.^[1] The microfibrils that are made up of fibrillin protein are responsible for different cell-matrix interactions in the human body.

Fibrillin-2

Fibrillin-2 was isolated in 1994 by Zhang^[7] and is thought to play a role in early elastogenesis. Mutations in the fibrillin-2 gene have been linked to Beal's Syndrome.

Fibrillin-3

More recently, fibrillin-3 was described and is believed to be located mainly in the brain.^[8] Along with the brain, fibrillin-3 has been localized in the gonads and ovaries of field mice.

Fibrillin-4

Fibrillin-4 has only very recently been discovered in zebrafish, and has a sequence similar to fibrillin-2.^[9]

References

^ ^a ^b ^c PDB 2W86; Jensen SA, Iqbal S, Lowe ED, Redfield C, Handford PA (May 2009). "Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins". Structure 17 (5): 759–68. doi:10.1016/j.str.2009.03.014. PMC 2724076. PMID 19446531.
^ Kielty CM, Baldock C, Lee D, Rock MJ, Ashworth JL, Shuttleworth CA (February 2002). "Fibrillin: from microfibril assembly to biomechanical function". Philos. Trans. R. Soc. Lond., B, Biol. Sci. 357 (1418): 207–17. doi:10.1098/rstb.2001.1029. PMC 1692929. PMID 11911778.
^ Singh (2006). Textbook of human histology. Jaypee Brothers Publishers. pp. 64–. ISBN 978-81-8061-809-3. Retrieved 9 December 2010.
^ Buchan, J. G.; Alvarado, D. M.; Haller, G. E.; Cruchaga, C; Harms, M. B.; Zhang, T; Willing, M. C.; Grange, D. K.; Braverman, A. C.; Miller, N. H.; Morcuende, J. A.; Tang, N. L.; Lam, T. P.; Ng, B. K.; Cheng, J. C.; Dobbs, M. B.; Gurnett, C. A. (2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics. doi:10.1093/hmg/ddu224. PMID 24833718. edit
^ Sakai LY, Keene DR, Engvall E (December 1986). "Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils". J. Cell Biol. 103 (6 Pt 1): 2499–509. doi:10.1083/jcb.103.6.2499. PMC 2114568. PMID 3536967.
^ Dietz HC; Guttmacher, Alan E.; Dietz, Harry C. (August 2010). "New therapeutic approaches to mendelian disorders". N. Engl. J. Med. 363 (9): 852–63. doi:10.1056/NEJMra0907180. PMID 20818846.
^ Zhang H, Apfelroth SD, Hu W, et al. (1994). "Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices". J. Cell Biol. 124 (5): 855–63. doi:10.1083/jcb.124.5.855. PMC 2119952. PMID 8120105.
^ Corson GM, Charbonneau NL, Keene DR, Sakai LY (March 2004). "Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues". Genomics 83 (3): 461–72. doi:10.1016/j.ygeno.2003.08.023. PMID 14962672.
^ Gansner JM, Madsen EC, Mecham RP, Gitlin JD (October 2008). "Essential role for fibrillin-2 in zebrafish notochord and vascular morphogenesis". Dev. Dyn. 237 (10): 2844–61. doi:10.1002/dvdy.21705. PMC 3081706. PMID 18816837.

External links

Fibrillin at the US National Library of Medicine Medical Subject Headings (MeSH)

UpToDate Contents

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1. マルファン症候群および関連疾患の遺伝学、臨床的特徴、および診断 genetics clinical features and diagnosis of marfan syndrome and related disorders
2. マルファン症候群および関連疾患の管理 management of marfan syndrome and related disorders
3. 全身性硬化症（強皮症）の危険因子および考えられる原因 risk factors for and possible causes of systemic sclerosis scleroderma
4. 高身長または異常に急激な成長がみられる小児 the child with tall stature or abnormally rapid growth
5. 特発性脳動脈および頚動脈の解離：臨床的特徴および診断 spontaneous cerebral and cervical artery dissection clinical features and diagnosis

English Journal

PMID 25797463

Partially Digested Adult Cardiac Extracellular Matrix Promotes Cardiomyocyte Proliferation In Vitro.

Williams C1, Sullivan K1, Black LD 3rd1,2.
Advanced healthcare materials.Adv Healthc Mater.2015 May 18. doi: 10.1002/adhm.201500035. [Epub ahead of print]
Stimulating or maintaining the proliferative capacity of postnatal mammalian cardiomyocytes is a major challenge to cardiac regeneration. Previously, it is found that fetal cardiac extracellular matrix (ECM) can promote neonatal rat cardiomyocyte proliferation in vitro better than neonatal or adult
PMID 25988681

Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome.

Busnadiego O1, Gorbenko Del Blanco D2, González-Santamaria J1, Habashi JP3, Calderon JF3, Sandoval P1, Bedja D3, Guinea-Viniegra J4, Lopez-Cabrera M1, Rosell-Garcia T1, Snabel JM5, Hanemaaijer R5, Forteza A6, Dietz HC3, Egea G2, Rodriguez-Pascual F7.
Journal of molecular and cellular cardiology.J Mol Cell Cardiol.2015 May 16. pii: S0022-2828(15)00156-X. doi: 10.1016/j.yjmcc.2015.05.008. [Epub ahead of print]
Patients with Marfan syndrome (MFS) are at high risk of life-threatening aortic dissections. The condition is caused by mutations in the gene encoding fibrillin-1, an essential component in the formation of elastic fibers. While experimental findings in animal models of the disease have shown the in
PMID 25988230

Japanese Journal

P6 口蓋発生におけるFibrillin1およびFibrillin2の発現(ポスター2,第39回福岡歯科大学学会総会抄録)

比嘉ありさ,岡暁子,吉良迪子,敦賀英和,沢禎彦,尾崎正雄
福岡歯科大学学会雑誌 38(増補), 37, 2012-11-12
NAID 110009554233

歯の発生における Fibrillin1 および Fibrillin2 の発現

吉良迪子,岡暁子,敦賀英知,沢禎彦,尾崎正雄
小児歯科学雑誌 50(2), 169, 2012-04-25
NAID 10030558655

P-13 顔面発生におけるFibrillin-1およびFibrillin-2の発現(ポスター4,第38回福岡歯科大学学会総会抄録)

吉良迪子,岡暁子,敦賀英知,沢禎彦,尾崎正雄
福岡歯科大学学会雑誌 38(1), 61, 2012-04-12
NAID 110009457438

Related Pictures

★リンクテーブル★

リンク元

「フィブリリン」

fibrillin 3
Identifiers
Symbol	FBN3
Entrez	84467
HUGO	18794
OMIM	608529
RefSeq	NM_032447
UniProt	Q75N90
Other data
Locus	Chr. 19 p13

fibrillin 2
Identifiers
Symbol	FBN2
Alt. symbols	CCA
Entrez	2201
HUGO	3604
OMIM	121050
RefSeq	NM_001999
UniProt	P35556
Other data
Locus	Chr. 5 q23-q31

fibrillin 1
	Crystallographic structure of the cbEGF9-hybrid2-cbEGF10 region of human fibrillin 1.
Identifiers
Symbol	FBN1
Alt. symbols	FBN, MFS1, WMS
Entrez	2200
HUGO	3603
OMIM	134797
PDB	2W86 (RCSB PDB PDBe PDBj)
RefSeq	NM_000138
UniProt	P35555
Other data
Locus	Chr. 15 q21.1

　　[★]

英: fibrillin ← フィブリン fibrin と勘違いするな
関: ミクロフィブリル細線維、弾性線維

ミクロフィブリル構成タンパク質

臨床関連

マルファン症候群

-fibrillin

[pmid19446531-1] PDB 2W86; Jensen SA, Iqbal S, Lowe ED, Redfield C, Handford PA (May 2009). "Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins". Structure 17 (5): 759–68. doi:10.1016/j.str.2009.03.014. PMC 2724076. PMID 19446531.

[pmid11911778-2] Kielty CM, Baldock C, Lee D, Rock MJ, Ashworth JL, Shuttleworth CA (February 2002). "Fibrillin: from microfibril assembly to biomechanical function". Philos. Trans. R. Soc. Lond., B, Biol. Sci. 357 (1418): 207–17. doi:10.1098/rstb.2001.1029. PMC 1692929. PMID 11911778.

[Singh2006-3] Singh (2006). Textbook of human histology. Jaypee Brothers Publishers. pp. 64–. ISBN 978-81-8061-809-3. Retrieved 9 December 2010.

[4] Buchan, J. G.; Alvarado, D. M.; Haller, G. E.; Cruchaga, C; Harms, M. B.; Zhang, T; Willing, M. C.; Grange, D. K.; Braverman, A. C.; Miller, N. H.; Morcuende, J. A.; Tang, N. L.; Lam, T. P.; Ng, B. K.; Cheng, J. C.; Dobbs, M. B.; Gurnett, C. A. (2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics. doi:10.1093/hmg/ddu224. PMID 24833718. edit

[pmid3536967-5] Sakai LY, Keene DR, Engvall E (December 1986). "Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils". J. Cell Biol. 103 (6 Pt 1): 2499–509. doi:10.1083/jcb.103.6.2499. PMC 2114568. PMID 3536967.

[pmid20818846-6] Dietz HC; Guttmacher, Alan E.; Dietz, Harry C. (August 2010). "New therapeutic approaches to mendelian disorders". N. Engl. J. Med. 363 (9): 852–63. doi:10.1056/NEJMra0907180. PMID 20818846.

[7] Zhang H, Apfelroth SD, Hu W, et al. (1994). "Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices". J. Cell Biol. 124 (5): 855–63. doi:10.1083/jcb.124.5.855. PMC 2119952. PMID 8120105.

[pmid14962672-8] Corson GM, Charbonneau NL, Keene DR, Sakai LY (March 2004). "Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues". Genomics 83 (3): 461–72. doi:10.1016/j.ygeno.2003.08.023. PMID 14962672.

[pmid18816837-9] Gansner JM, Madsen EC, Mecham RP, Gitlin JD (October 2008). "Essential role for fibrillin-2 in zebrafish notochord and vascular morphogenesis". Dev. Dyn. 237 (10): 2844–61. doi:10.1002/dvdy.21705. PMC 3081706. PMID 18816837.

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fibrillin