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DSCAM information


DSCAM
Identifiers
AliasesDSCAM, CHD2-42, CHD2-52, CHD2, DS cell adhesion molecule
External IDsOMIM: 602523 MGI: 1196281 HomoloGene: 74393 GeneCards: DSCAM
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001271534
NM_001389

NM_031174

RefSeq (protein)

NP_001258463
NP_001380

NP_112451

Location (UCSC)Chr 21: 40.01 – 40.85 MbChr 16: 96.59 – 97.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Down syndrome cell adhesion molecule, chordates
Identifiers
SymbolDSCAM_chordates
InterProIPR033027

DSCAM and Dscam are both abbreviations for Down syndrome cell adhesion molecule.[5] In humans, DSCAM refers to a gene that encodes one of several protein isoforms.[6]

Down syndrome (DS), caused by trisomy 21, is the most common birth defect associated with intellectual disability. DSCAM plays a crucial role in the development of DS: it is expressed in the developing nervous system, with the highest level of expression occurring in the fetal brain. When over-expressed in the developing fetal central nervous system, it leads to Down syndrome.

A homologue of the Dscam protein in Drosophila melanogaster has 38,016 isoforms[7] arising from four variable exon clusters (12, 48, 33 and 2 alternatives, respectively).[5] By comparison, the entire Drosophila melanogaster genome only has 15,016 genes. The diversity of isoforms from alternative splicing of the Dscam1 gene in D. melanogaster allows every neuron in the fly to display a unique set of Dscam proteins on its cell surface. Dscam interaction stimulates neuronal self-avoidance mechanisms that are essential for normal neural circuit development.[8]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171587 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050272 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Schmucker D, Clemens JC, Shu H, Worby CA, Xiao J, Muda M, Dixon JE, Zipursky SL (June 2000). "Drosophila Dscam is an axon guidance receptor exhibiting extraordinary molecular diversity". Cell. 101 (6): 671–84. doi:10.1016/S0092-8674(00)80878-8. PMID 10892653.
  6. ^ Alves-Sampaio, Alexandra; José Antonio Troca-Marín; María Luz Montesinos (6 October 2010). "NMDA-Mediated Regulation of DSCAM Dendritic Local Translation Is Lost in a Mouse Model of Down's Syndrome". The Journal of Neuroscience. 30 (40): 13537–13548. doi:10.1523/JNEUROSCI.3457-10.2010. PMC 6634725. PMID 20926679.
  7. ^ Neves, G.; Zucker J; Daly M; Chess A. (February 2004). "Stochastic yet biased expression of multiple Dscam splice variants by individual cells". Nature Genetics. 36 (3): 240–246. doi:10.1038/ng1299. PMID 14758360.
  8. ^ Hattori D, Millard SS, Wojtowicz WM, Zipursky SL (2008). "Dscam-mediated cell recognition regulates neural circuit formation". Annu. Rev. Cell Dev. Biol. 24 (1): 597–620. doi:10.1146/annurev.cellbio.24.110707.175250. PMC 2711549. PMID 18837673.

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DSCAM

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DSCAM and Dscam are both abbreviations for Down syndrome cell adhesion molecule. In humans, DSCAM refers to a gene that encodes one of several protein...

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Spliceosome

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currently estimated at around 20,000. One particular Drosophila gene, Dscam, has been speculated to be alternatively spliced into 38,000 different mRNAs...

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Chromosome 21

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3-like DOP1B: encoding protein dopey family member 2 DSCAM: encoding cell adhesion molecule DSCAM DYRK1A: dual specificity tyrosine-(Y)-phosphorylation...

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Adaptive immune system

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fathers. Most commonly accepted theory of the specificity is based on Dscam gene. Dscam gene also known as Down syndrome cell adhesive molecule is a gene...

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Immunoglobulin domain

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CEACAM6 CEACAM8 CHL1 CILP CNTFR CNTN1 CNTN2 CNTN3 CNTN4 CNTN5 CNTN6 CSF1R DSCAM DSCAML1 EMB F11R FAIM3 FCAR FCER1A FCGR1A FCGR2A FCGR2B FCGR2C FCGR3A FCGR3B...

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IgSF CAM

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CADM1 and other Synaptic Cell Adhesion Molecules CD2 CD48 HEPACAM HEPACAM2 DSCAM - Down syndrome cell adhesion molecule Lajtha A, Banik NL, Banik N (2007)...

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Alternative splicing

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"record-holder" for alternative splicing is a D. melanogaster gene called Dscam, which could potentially have 38,016 splice variants. In 2021, it was discovered...

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Down syndrome cell adhesion molecule like 1

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molecule like 1 is a protein in humans that is encoded by the DSCAML1 gene. DSCAM, Down syndrome cell adhesion molecule Fibronectin type III domain Immunoglobulin...

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Protocadherin

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self-recognition/self-avoidance similar to that ascribed to DSCAM proteins of invertebrates. Although vertebrate DSCAMs lack the diversity of their invertebrate counterparts...

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Circular RNA

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the most striking examples of alternative splicing is in the Drosophila DSCAM gene, which can give rise to approximately 30 thousand distinct alternatively...

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CHD2

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more people with autism. These six genes — CHD8, DYRK1A, ANK2, GRIN2B, DSCAM and CHD2 — are the strongest autism candidates identified so far. Syndromes...

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Fibronectin type III domain

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CNTN6; COL12A1; COL14A1; COL20A1; COL7A1; CRLF1; CRLF3; CSF2RB; CSF3R; DCC; DSCAM; DSCAML1; EBI3; EGFLAM; EPHA1; EPHA10; EPHA2; EPHA3; EPHA4; EPHA5; EPHA6;...

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MARCM

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MARCM highlights individual cells inside of mutant clones (ref "Drosophila Dscam is required for divergent segregation of sister branches and suppresses...

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Yashar Niknafs

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Chinnaiyan AM, Feng FY. The lncRNA landscape of breast cancer reveals a role for DSCAM-AS1 in breast cancer progression. Nature Communications. 2016. Shukla S...

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Chemosensory protein

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post-translational modifications and/or RNA-peptide editing as in the case of Dscam and cochlear sensory genes [9-14]. CSP genes evolved via duplication, intron...

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