Strabismus (protein)

Last updated
vang-like 1 (van gogh, Drosophila)
Identifiers
Symbol VANGL1
Entrez 81839
OMIM 610132

Strabismus was originally identified as a Drosophila protein involved in planar cell polarity. [1] Flies with mutated strabismus genes have altered development of ommatidia in their eyes. Vertebrates have two Strabismus-related proteins, VANGL1 and VANGL2 (an alternate name for the Drosophila "Strabismus" protein is "Van Gogh").

<i>Drosophila</i> genus of insects

Drosophila is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit. They should not be confused with the Tephritidae, a related family, which are also called fruit flies ; tephritids feed primarily on unripe or ripe fruit, with many species being regarded as destructive agricultural pests, especially the Mediterranean fruit fly. One species of Drosophila in particular, D. melanogaster, has been heavily used in research in genetics and is a common model organism in developmental biology. The terms "fruit fly" and "Drosophila" are often used synonymously with D. melanogaster in modern biological literature. The entire genus, however, contains more than 1,500 species and is very diverse in appearance, behavior, and breeding habitat.

Ommatidium

The compound eyes of arthropods like insects, crustaceans and millipedes are composed of units called ommatidia. An ommatidium contains a cluster of photoreceptor cells surrounded by support cells and pigment cells. The outer part of the ommatidium is overlaid with a transparent cornea. Each ommatidium is innervated by one axon bundle and provides the brain with one picture element. The brain forms an image from these independent picture elements. The number of ommatidia in the eye depends upon the type of arthropod and may be as low as 5 as in the Antarctic isopod Glyptonotus antarcticus or range from just a handful in the primitive Zygentoma to around 30 thousand in larger Anisoptera dragonflies as well as in some Sphingidae moths.

Compound eye Arthropod eye

A compound eye is a visual organ found in arthropods such as insects and crustaceans. It may consist of thousands of ommatidia, which are tiny independent photoreception units that consist of a cornea, lens, and photoreceptor cells which distinguish brightness and color. The image perceived by the arthropod is a combination of inputs from the numerous ommatidia, which are oriented to point in slightly different directions. Compared with single-aperture eyes, compound eyes have poor image resolution; however, they possess a very large view angle and the ability to detect fast movement and, in some cases, the polarization of light.

Contents

The amino acid sequence and localization studies for Strabismus indicate that it is a membrane protein. Prickle is another protein in the planar cell polarity signaling pathway. Prickle is recruited to the cell surface membrane by strabismus. [2] In cells of the developing Drosophila wing, Prickle and Strabismus are concentrated at the cell surface membrane on the most proximal side of cells. [3]

Membrane protein class of proteins

Membrane proteins are proteins that interact with, or are part of, biological membranes. They include integral membrane proteins that are permanently anchored or part of the membrane and peripheral membrane proteins that are only temporarily attached to the lipid bilayer or to other integral proteins. The integral membrane proteins are classified as transmembrane proteins that span across the membrane and integral monotopic proteins that are attached to only one side of the membrane. Membrane proteins are a common type of proteins along with soluble globular proteins, fibrous proteins, and disordered proteins. They are targets of over 50% of all modern medicinal drugs. It is estimated that 20–30% of all genes in most genomes encode membrane proteins.

Prickle is also known as REST/NRSF-interacting LIM domain protein, which is a putative nuclear translocation receptor. Prickle is part of the non-canonical Wnt signaling pathway that establishes planar cell polarity. A gain or loss of function of Prickle1 causes defects in the convergent extension movements of gastrulation. In epithelial cells, Prickle2 establishes and maintains cell apical/basal polarity. Prickle1 plays an important role in the development of the nervous system by regulating the movement of nerve cells.

Cell (biology) the basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.

The cell is the basic structural, functional, and biological unit of all known living organisms. A cell is the smallest unit of life. Cells are often called the "building blocks of life". The study of cells is called cell biology.

Vertebrate cell movement

vang-like 2 (van gogh, Drosophila)
Identifiers
Symbol VANGL2
Entrez 57216
OMIM 600533

VANGL2 is involved in the migration of groups of cells during vertebrate embryogenesis. [4]

Humans

In humans, mutations in VANGL1 have been associated with neural tube defects including spina bifida, [5] and with some forms of cancer including hepatocellular carcinoma. [6] [7]

Neural tube defect congenital disorder of nervous system

Neural tube defects (NTDs) are a group of birth defects in which an opening in the spinal cord or brain remains from early in human development. In the 3rd week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops.

Spina bifida congenital disorder of nervous system

Spina bifida is a birth defect where there is incomplete closing of the backbone and membranes around the spinal cord. There are three main types: spina bifida occulta, meningocele, and myelomeningocele. The most common location is the lower back, but in rare cases it may be the middle back or neck. Occulta has no or only mild signs. Signs of occulta may include a hairy patch, dimple, dark spot, or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Associated problems include poor ability to walk, problems with bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord, and latex allergy. Learning problems are relatively uncommon.

Cancer disease of uncontrolled, unregulated and abnormal cell growth

Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread to other parts of the body. Possible signs and symptoms include a lump, abnormal bleeding, prolonged cough, unexplained weight loss and a change in bowel movements. While these symptoms may indicate cancer, they may have other causes. Over 100 types of cancers affect humans.

Related Research Articles

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The Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. Wnt is an acronym in the field of genetics that stands for 'Wingless/Integrated'.

The Hedgehog signaling pathway is a signaling pathway that transmits information to embryonic cells required for proper cell differentiation. Different parts of the embryo have different concentrations of hedgehog signaling proteins. The pathway also has roles in the adult. Diseases associated with the malfunction of this pathway include basal cell carcinoma.

Smoothened protein-coding gene in the species Homo sapiens

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Flamingo is a member of the adhesion-GPCR family of proteins. Flamingo has sequence homology to cadherins and G protein-coupled receptors (GPCR). Flamingo was originally identified as a Drosophila protein involved in planar cell polarity. Mammals have three flamingo homologs, CELSR1, CELSR2, CELSR3. In mice all three have distinct expression patterns in the brain.

Frizzled

Frizzled is a family of G protein-coupled receptor proteins that serves as receptors in the Wnt signaling pathway and other signaling pathways. When activated, Frizzled leads to activation of Dishevelled in the cytosol.

FZD5 protein-coding gene in the species Homo sapiens

Frizzled-5 is a protein that in humans is encoded by the FZD5 gene.

SNAI1 protein-coding gene in the species Homo sapiens

Zinc finger protein SNAI1 is a protein that in humans is encoded by the SNAI1 gene. Snail is a family of transcription factors that promote the repression of the adhesion molecule E-cadherin to regulate epithelial to mesenchymal transition (EMT) during embryonic development.

HES1 protein-coding gene in the species Homo sapiens

Transcription factor HES1 is a protein that is encoded by the Hes1 gene, and is the mammalian homolog of the hairy gene in Drosophila. HES1 is one of the seven members of the Hes gene family (HES1-7). Hes genes code nuclear proteins that suppress transcription.

DVL2 protein-coding gene in the species Homo sapiens

Segment polarity protein dishevelled homolog DVL-2 is a protein that in humans is encoded by the DVL2 gene.

DVL3 protein-coding gene in the species Homo sapiens

Segment polarity protein dishevelled homolog DVL-3 is a protein that in humans is encoded by the DVL3 gene.

HES5 protein-coding gene in the species Homo sapiens

Transcription factor HES-5 is a protein that in humans is encoded by the HES5 gene.

RAB23 protein-coding gene in the species Homo sapiens

Ras-related protein Rab-23 is a protein that in humans is encoded by the RAB23 gene. Alternative splicing occurs at this gene locus and two transcript variants encoding the same protein have been identified.

PTK7 protein-coding gene in the species Homo sapiens

Tyrosine-protein kinase-like 7 also known as colon carcinoma kinase 4 (CCK4) is a receptor tyrosine kinase that in humans is encoded by the PTK7 gene.

Dishevelled

Dishevelled (Dsh) is a family of proteins involved in canonical and non-canonical Wnt signalling pathways. Dsh is a cytoplasmic phosphoprotein that acts directly downstream of frizzled receptors. It takes its name from its initial discovery in flies, where a mutation in the dishevelled gene was observed to cause improper orientation of body and wing hairs. There are vertebrae homologs in zebrafish, Xenopus (Xdsh), mice and humans. Dsh relays complex Wnt signals in tissues and cells, in normal and abnormal contexts. It is thought to interact with the novel protein, SPATS1, when regulating the Wnt Signalling pathway.

Patched (Ptc) is a conserved 12-pass transmembrane protein receptor that plays an obligate negative regulatory role in the Hedgehog signaling pathway in insects and vertebrates. Patched is an essential gene in embryogenesis for proper segmentation in the fly embryo, mutations in which may be embryonic lethal. Patched functions as the receptor for the Hedgehog protein and controls its spatial distribution, in part via endocytosis of bound Hedgehog protein, which is then targeted for lysosomal degradation.

PRICKLE1 protein-coding gene in the species Homo sapiens

Prickle planar cell polarity protein 1 is a protein that in humans is encoded by the PRICKLE1 gene.

Prickle planar cell polarity protein 2 protein-coding gene in the species Homo sapiens

Prickle planar cell polarity protein 2 is a protein that in humans is encoded by the PRICKLE2 gene.

VANGL2 protein-coding gene in the species Homo sapiens

VANGL planar cell polarity protein 2 is a protein that in humans is encoded by the VANGL2 gene.

References

  1. Wolff T, Rubin GM (March 1998). "Strabismus, a novel gene that regulates tissue polarity and cell fate decisions in Drosophila". Development. 125 (6): 1149–59. PMID   9463361.
  2. Bastock R, Strutt H, Strutt D (July 2003). "Strabismus is asymmetrically localised and binds to Prickle and Dishevelled during Drosophila planar polarity patterning". Development. 130 (13): 3007–14. doi:10.1242/dev.00526. PMID   12756182.
  3. Fanto M, McNeill H (February 2004). "Planar polarity from flies to vertebrates". J. Cell Sci. 117 (Pt 4): 527–33. doi:10.1242/jcs.00973. PMID   14730010.
  4. Darken RS, Scola AM, Rakeman AS, Das G, Mlodzik M, Wilson PA (March 2002). "The planar polarity gene strabismus regulates convergent extension movements in Xenopus". EMBO J. 21 (5): 976–85. doi:10.1093/emboj/21.5.976. PMC   125882 Lock-green.svg. PMID   11867525.
  5. Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P (2007). "Mutations in VANGL1 associated with neural-tube defects". N. Engl. J. Med. 356 (14): 1432–7. doi:10.1056/NEJMoa060651. PMID   17409324.
  6. Yagyu R, Hamamoto R, Furukawa Y, Okabe H, Yamamura T, Nakamura Y (2002). "Isolation and characterization of a novel human gene, VANGL1, as a therapeutic target for hepatocellular carcinoma". Int. J. Oncol. 20 (6): 1173–8. doi:10.3892/ijo.20.6.1173. PMID   12011995.
  7. Katoh M (2002). "Strabismus (STB)/Vang-like (VANGL) gene family". Int. J. Mol. Med. 10 (1): 11–5. doi:10.3892/ijmm.10.1.11. PMID   12060845.