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{{Infobox_gene}}
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'''Myosin-11''' is a [[protein]] that in humans is encoded by the ''MYH11'' [[gene]].<ref name="pmid7684189">{{cite journal |vauthors=Matsuoka R, Yoshida MC, Furutani Y, Imamura S, Kanda N, Yanagisawa M, Masaki T, Takao A | title = Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12 | journal = Am J Med Genet | volume = 46 | issue = 1 | pages = 61–7 |date=Jun 1993 | pmid = 7684189 | pmc =  | doi = 10.1002/ajmg.1320460110 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MYH11 myosin, heavy chain 11, smooth muscle| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4629| accessdate = }}</ref>
| require_manual_inspection = no
 
| update_protein_box = yes
== Function ==
| update_summary = yes
 
| update_citations = yes
Myosin-11 is a smooth muscle [[myosin]] belonging to the myosin heavy chain family. Myosin-11 is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits.
}}
 
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
It is a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of [[Adenosine triphosphate|ATP]].
{{GNF_Protein_box
 
| image = PBB_Protein_MYH11_image.jpg
Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation.<ref name="entrez"/>
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1br1.
 
| PDB = {{PDB2|1br1}}, {{PDB2|1br2}}, {{PDB2|1br4}}, {{PDB2|1i84}}
== Clinical significance ==
| Name = Myosin, heavy chain 11, smooth muscle
 
| HGNCid = 7569
Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. When TAAD occurs in the absence of syndromic features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD.  Familial TAAD exhibits significant clinical and genetic heterogeneity.  Mutations in MYH11 have been described in individuals with TAAD with patent ductus arteriosus (PDA).  Of individuals with TAAD, approximately 4% have mutations in TGFBR2, and approximately 1-2% have mutations in either TGFBR1 or MYH11.  In addition, FBN1 mutations have also been reported in individuals with TAAD.  Mutations within the SMAD3 gene have recently been reported in patients with a syndromic form of aortic aneurysms and dissections with early onset osteoarthritis.  SMAD3 mutations are thought to account for approximately 2% of familial TAAD.  Additionally, mutations in the ACTA2 gene are thought to account for approximately 10-14% of familial TAAD.<ref>Boston University Center for Human Genetics - http://www.bumc.bu.edu/hg/dnadiagnostics/dnatestdescription/#Thoracic Aortic Aneurysms</ref>
| Symbol = MYH11
 
| AltSymbols =; AAT4; DKFZp686D10126; DKFZp686D19237; FAA4; FLJ35232; MGC126726; MGC32963; SMHC; SMMHC
==Acute myeloid leukemia==
| OMIM = 160745
 
| ECnumber = 
The gene encoding a human ortholog of rat [[NDE1|NUDE1]] is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N-terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with [[acute myeloid leukemia]] of the M4Eo subtype.
| Homologene = 68258
 
| MGIid = 102643
== Intestinal cancer ==
| GeneAtlas_image1 = PBB_GE_MYH11_201496_x_at_tn.png
  | GeneAtlas_image2 = PBB_GE_MYH11_201495_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_MYH11_201497_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003774 |text = motor activity}} {{GNF_GO|id=GO:0003779 |text = actin binding}} {{GNF_GO|id=GO:0005516 |text = calmodulin binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008307 |text = structural constituent of muscle}}
| Component = {{GNF_GO|id=GO:0005859 |text = muscle myosin complex}} {{GNF_GO|id=GO:0005863 |text = striated muscle thick filament}} {{GNF_GO|id=GO:0016459 |text = myosin complex}}
| Process = {{GNF_GO|id=GO:0006939 |text = smooth muscle contraction}} {{GNF_GO|id=GO:0006941 |text = striated muscle contraction}} {{GNF_GO|id=GO:0030241 |text = muscle thick filament assembly}} {{GNF_GO|id=GO:0048251 |text = elastic fiber assembly}} {{GNF_GO|id=GO:0048746 |text = smooth muscle fiber development}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4629
    | Hs_Ensembl = ENSG00000133392
    | Hs_RefseqProtein = NP_001035202
    | Hs_RefseqmRNA = NM_001040113
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 16
    | Hs_GenLoc_start = 15704495
    | Hs_GenLoc_end = 15858369
    | Hs_Uniprot = P35749
    | Mm_EntrezGene = 17880
    | Mm_Ensembl = ENSMUSG00000018830
    | Mm_RefseqmRNA = NM_013607
    | Mm_RefseqProtein = NP_038635
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 16
    | Mm_GenLoc_start = 14108110
    | Mm_GenLoc_end = 14204950
    | Mm_Uniprot = Q69ZX3
  }}
}}
'''Myosin, heavy chain 11, smooth muscle''', also known as '''MYH11''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MYH11 myosin, heavy chain 11, smooth muscle| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4629| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
MYH11 mutations appear to contribute to human intestinal cancer.<ref name="pmid18391202">{{cite journal |vauthors=Alhopuro P, Phichith D, Tuupanen S, Sammalkorpi H, Nybondas M, Saharinen J, Robinson JP, Yang Z, Chen LQ, Orntoft T, Mecklin JP, Järvinen H, Eng C, Moeslein G, Shibata D, Houlston RS, Lucassen A, Tomlinson IP, Launonen V, Ristimäki A, Arango D, Karhu A, Sweeney HL, Aaltonen LA | title = Unregulated smooth-muscle myosin in human intestinal neoplasia | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 105 | issue = 14 | pages = 5513–8 |date=April 2008 | pmid = 18391202 | pmc = 2291082 | doi = 10.1073/pnas.0801213105 | url = | issn = }}</ref>
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified.<ref name="entrez">{{cite web | title = Entrez Gene: MYH11 myosin, heavy chain 11, smooth muscle| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4629| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=taa  GeneReviews/NIH/NCBI/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Babu GJ, Warshaw DM, Periasamy M |title=Smooth muscle myosin heavy chain isoforms and their role in muscle physiology. |journal=Microsc. Res. Tech. |volume=50 |issue= 6 |pages= 532-40 |year= 2000 |pmid= 10998642 |doi= 10.1002/1097-0029(20000915)50:6<532::AID-JEMT10>3.0.CO;2-E }}
*{{cite journal  |vauthors=Babu GJ, Warshaw DM, Periasamy M |title=Smooth muscle myosin heavy chain isoforms and their role in muscle physiology. |journal=Microsc. Res. Tech. |volume=50 |issue= 6 |pages= 532–40 |year= 2000 |pmid= 10998642 |doi= 10.1002/1097-0029(20000915)50:6<532::AID-JEMT10>3.0.CO;2-E }}
*{{cite journal | author=Matsuoka R, Yoshida MC, Furutani Y, ''et al.'' |title=Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12. |journal=Am. J. Med. Genet. |volume=46 |issue= 1 |pages= 61-7 |year= 1993 |pmid= 7684189 |doi= 10.1002/ajmg.1320460110 }}
*{{cite journal   |vauthors=Aikawa M, Sivam PN, Kuro-o M, etal |title=Human smooth muscle myosin heavy chain isoforms as molecular markers for vascular development and atherosclerosis. |journal=Circ. Res. |volume=73 |issue= 6 |pages= 1000–12 |year= 1993 |pmid= 7916668 |doi= 10.1161/01.res.73.6.1000}}
*{{cite journal | author=Aikawa M, Sivam PN, Kuro-o M, ''et al.'' |title=Human smooth muscle myosin heavy chain isoforms as molecular markers for vascular development and atherosclerosis. |journal=Circ. Res. |volume=73 |issue= 6 |pages= 1000-12 |year= 1993 |pmid= 7916668 |doi=  }}
*{{cite journal   |vauthors=van der Reijden BA, Dauwerse JG, Wessels JW, etal |title=A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo. |journal=Blood |volume=82 |issue= 10 |pages= 2948–52 |year= 1993 |pmid= 8219185 |doi=  }}
*{{cite journal | author=van der Reijden BA, Dauwerse JG, Wessels JW, ''et al.'' |title=A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo. |journal=Blood |volume=82 |issue= 10 |pages= 2948-52 |year= 1993 |pmid= 8219185 |doi= }}
*{{cite journal   |vauthors=Deng Z, Liu P, Marlton P, etal |title=Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16. |journal=Genomics |volume=18 |issue= 1 |pages= 156–9 |year= 1994 |pmid= 8276405 |doi= 10.1006/geno.1993.1443 }}
*{{cite journal | author=Deng Z, Liu P, Marlton P, ''et al.'' |title=Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16. |journal=Genomics |volume=18 |issue= 1 |pages= 156-9 |year= 1994 |pmid= 8276405 |doi= 10.1006/geno.1993.1443 }}
*{{cite journal   |vauthors=Shoeman RL, Sachse C, Höner B, etal |title=Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin. |journal=Am. J. Pathol. |volume=142 |issue= 1 |pages= 221–30 |year= 1993 |pmid= 8424456 |doi= | pmc=1886840  }}
*{{cite journal | author=Shoeman RL, Sachse C, Höner B, ''et al.'' |title=Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin. |journal=Am. J. Pathol. |volume=142 |issue= 1 |pages= 221-30 |year= 1993 |pmid= 8424456 |doi=  }}
*{{cite journal   |vauthors=New L, Jiang Y, Zhao M, etal |title=PRAK, a novel protein kinase regulated by the p38 MAP kinase. |journal=EMBO J. |volume=17 |issue= 12 |pages= 3372–84 |year= 1998 |pmid= 9628874 |doi= 10.1093/emboj/17.12.3372 | pmc=1170675 }}
*{{cite journal | author=New L, Jiang Y, Zhao M, ''et al.'' |title=PRAK, a novel protein kinase regulated by the p38 MAP kinase. |journal=EMBO J. |volume=17 |issue= 12 |pages= 3372-84 |year= 1998 |pmid= 9628874 |doi= 10.1093/emboj/17.12.3372 }}
*{{cite journal   |vauthors=Tanaka Y, Fujii M, Hayashi K, etal |title=The chimeric protein, PEBP2 beta/CBF beta-SMMHC, disorganizes cytoplasmic stress fibers and inhibits transcriptional activation. |journal=Oncogene |volume=17 |issue= 6 |pages= 699–708 |year= 1998 |pmid= 9715271 |doi= 10.1038/sj.onc.1201985 }}
*{{cite journal | author=Tanaka Y, Fujii M, Hayashi K, ''et al.'' |title=The chimeric protein, PEBP2 beta/CBF beta-SMMHC, disorganizes cytoplasmic stress fibers and inhibits transcriptional activation. |journal=Oncogene |volume=17 |issue= 6 |pages= 699-708 |year= 1998 |pmid= 9715271 |doi= 10.1038/sj.onc.1201985 }}
*{{cite journal   |vauthors=Nagase T, Ishikawa K, Suyama M, etal |title=Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 6 |pages= 355–64 |year= 1999 |pmid= 10048485 |doi=10.1093/dnares/5.6.355  }}
*{{cite journal | author=Nagase T, Ishikawa K, Suyama M, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 6 |pages= 355-64 |year= 1999 |pmid= 10048485 |doi= }}
*{{cite journal   |vauthors=Loftus BJ, Kim UJ, Sneddon VP, etal |title=Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. |journal=Genomics |volume=60 |issue= 3 |pages= 295–308 |year= 1999 |pmid= 10493829 |doi= 10.1006/geno.1999.5927 }}
*{{cite journal | author=Loftus BJ, Kim UJ, Sneddon VP, ''et al.'' |title=Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. |journal=Genomics |volume=60 |issue= 3 |pages= 295-308 |year= 1999 |pmid= 10493829 |doi= 10.1006/geno.1999.5927 }}
*{{cite journal   |vauthors=Tsuchio Y, Naito S, Nogami A, etal |title=Intracoronary serum smooth muscle myosin heavy chain levels following PTCA may predict restenosis. |journal=Japanese heart journal |volume=41 |issue= 2 |pages= 131–40 |year= 2000 |pmid= 10850529 |doi=10.1536/jhj.41.131  }}
*{{cite journal | author=Tsuchio Y, Naito S, Nogami A, ''et al.'' |title=Intracoronary serum smooth muscle myosin heavy chain levels following PTCA may predict restenosis. |journal=Japanese heart journal |volume=41 |issue= 2 |pages= 131-40 |year= 2000 |pmid= 10850529 |doi= }}
*{{cite journal   |vauthors=Lin VK, Wang D, Lee IL, etal |title=Myosin heavy chain gene expression in normal and hyperplastic human prostate tissue. |journal=Prostate |volume=44 |issue= 3 |pages= 193–203 |year= 2000 |pmid= 10906735 |doi=10.1002/1097-0045(20000801)44:3<193::AID-PROS3>3.0.CO;2-A }}
*{{cite journal  | author=Lin VK, Wang D, Lee IL, ''et al.'' |title=Myosin heavy chain gene expression in normal and hyperplastic human prostate tissue. |journal=Prostate |volume=44 |issue= 3 |pages= 193-203 |year= 2000 |pmid= 10906735 |doi= }}
*{{cite journal   |vauthors=Meloni I, Rubegni P, De Aloe G, etal |title=Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. |journal=Hum. Mutat. |volume=18 |issue= 1 |pages= 85 |year= 2001 |pmid= 11439001 |doi= 10.1002/humu.1157 }}
*{{cite journal | author=Meloni I, Rubegni P, De Aloe G, ''et al.'' |title=Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. |journal=Hum. Mutat. |volume=18 |issue= 1 |pages= 85 |year= 2001 |pmid= 11439001 |doi= 10.1002/humu.1157 }}
*{{cite journal   |vauthors=Kundu M, Chen A, Anderson S, etal |title=Role of Cbfb in hematopoiesis and perturbations resulting from expression of the leukemogenic fusion gene Cbfb-MYH11. |journal=Blood |volume=100 |issue= 7 |pages= 2449–56 |year= 2002 |pmid= 12239155 |doi= 10.1182/blood-2002-04-1064 }}
*{{cite journal | author=Kundu M, Chen A, Anderson S, ''et al.'' |title=Role of Cbfb in hematopoiesis and perturbations resulting from expression of the leukemogenic fusion gene Cbfb-MYH11. |journal=Blood |volume=100 |issue= 7 |pages= 2449-56 |year= 2002 |pmid= 12239155 |doi= 10.1182/blood-2002-04-1064 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Landrette SF, Kuo YH, Hensen K, etal |title=Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11. |journal=Blood |volume=105 |issue= 7 |pages= 2900–7 |year= 2005 |pmid= 15585652 |doi= 10.1182/blood-2004-09-3630 }}
*{{cite journal | author=Landrette SF, Kuo YH, Hensen K, ''et al.'' |title=Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11. |journal=Blood |volume=105 |issue= 7 |pages= 2900-7 |year= 2005 |pmid= 15585652 |doi= 10.1182/blood-2004-09-3630 }}
*{{cite journal   |vauthors=Léguillette R, Gil FR, Zitouni N, etal |title=(+)Insert smooth muscle myosin heavy chain (SM-B) isoform expression in human tissues. |journal=Am. J. Physiol., Cell Physiol. |volume=289 |issue= 5 |pages= C1277–85 |year= 2005 |pmid= 16000639 |doi= 10.1152/ajpcell.00244.2004 }}
*{{cite journal | author=Léguillette R, Gil FR, Zitouni N, ''et al.'' |title=(+)Insert smooth muscle myosin heavy chain (SM-B) isoform expression in human tissues. |journal=Am. J. Physiol., Cell Physiol. |volume=289 |issue= 5 |pages= C1277-85 |year= 2005 |pmid= 16000639 |doi= 10.1152/ajpcell.00244.2004 }}
*{{cite journal   |vauthors=Zhu L, Vranckx R, Khau Van Kien P, etal |title=Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. |journal=Nat. Genet. |volume=38 |issue= 3 |pages= 343–9 |year= 2006 |pmid= 16444274 |doi= 10.1038/ng1721 }}
*{{cite journal | author=Zhu L, Vranckx R, Khau Van Kien P, ''et al.'' |title=Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. |journal=Nat. Genet. |volume=38 |issue= 3 |pages= 343-9 |year= 2006 |pmid= 16444274 |doi= 10.1038/ng1721 }}
}}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=4629}}
{{Cytoskeletal Proteins}}


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Revision as of 07:12, 4 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Myosin-11 is a protein that in humans is encoded by the MYH11 gene.[1][2]

Function

Myosin-11 is a smooth muscle myosin belonging to the myosin heavy chain family. Myosin-11 is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits.

It is a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP.

Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation.[2]

Clinical significance

Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. When TAAD occurs in the absence of syndromic features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD. Familial TAAD exhibits significant clinical and genetic heterogeneity. Mutations in MYH11 have been described in individuals with TAAD with patent ductus arteriosus (PDA). Of individuals with TAAD, approximately 4% have mutations in TGFBR2, and approximately 1-2% have mutations in either TGFBR1 or MYH11. In addition, FBN1 mutations have also been reported in individuals with TAAD. Mutations within the SMAD3 gene have recently been reported in patients with a syndromic form of aortic aneurysms and dissections with early onset osteoarthritis. SMAD3 mutations are thought to account for approximately 2% of familial TAAD. Additionally, mutations in the ACTA2 gene are thought to account for approximately 10-14% of familial TAAD.[3]

Acute myeloid leukemia

The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N-terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype.

Intestinal cancer

MYH11 mutations appear to contribute to human intestinal cancer.[4]

References

  1. Matsuoka R, Yoshida MC, Furutani Y, Imamura S, Kanda N, Yanagisawa M, Masaki T, Takao A (Jun 1993). "Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12". Am J Med Genet. 46 (1): 61–7. doi:10.1002/ajmg.1320460110. PMID 7684189.
  2. 2.0 2.1 "Entrez Gene: MYH11 myosin, heavy chain 11, smooth muscle".
  3. Boston University Center for Human Genetics - http://www.bumc.bu.edu/hg/dnadiagnostics/dnatestdescription/#Thoracic Aortic Aneurysms
  4. Alhopuro P, Phichith D, Tuupanen S, Sammalkorpi H, Nybondas M, Saharinen J, Robinson JP, Yang Z, Chen LQ, Orntoft T, Mecklin JP, Järvinen H, Eng C, Moeslein G, Shibata D, Houlston RS, Lucassen A, Tomlinson IP, Launonen V, Ristimäki A, Arango D, Karhu A, Sweeney HL, Aaltonen LA (April 2008). "Unregulated smooth-muscle myosin in human intestinal neoplasia". Proc. Natl. Acad. Sci. U.S.A. 105 (14): 5513–8. doi:10.1073/pnas.0801213105. PMC 2291082. PMID 18391202.

External links

Further reading