FGF4

Source: Wikipedia, the free encyclopedia.
FGF4
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_002007

NM_010202

RefSeq (protein)

NP_001998

NP_034332

Location (UCSC)Chr 11: 69.77 – 69.78 MbChr 7: 144.4 – 144.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Fibroblast growth factor 4 is a protein that in humans is encoded by the FGF4 gene.[5][6]

The protein encoded by this gene is a member of the

SHH) signaling pathway.[6]

Function

During embryonic development, the 21-kD protein FGF4 functions as a signaling molecule that is involved in many important processes.

Fgf8, the expression of Fgf4 still results in polysyndactyly, but Fgf4 is also able to rescue all skeletal defects that arise from the lack of Fgf8. Therefore, the Fgf4 gene compensates for the loss of the Fgf8 gene, revealing that FGF4 and FGF8 perform similar functions in limb skeleton patterning and limb development.[10] Studies of zebrafish Fgf4 knockdown embryos demonstrated that when Fgf4 signaling is inhibited, randomized left-right patterning of the liver, pancreas, and heart takes place, showing that Fgf4 is a crucial gene involved in developing left-right patterning of visceral organs. Furthermore, unlike the role of FGF4 in limb development, FGF4 and FGF8 have distinct roles and function independently in the process of visceral organ left-right patterning.[11]
Fgf signaling pathway has also been demonstrated to drive hindgut identity during gastrointestinal development, and the up regulation of the Fgf4 in pluripotent stem cell has been used to direct their differentiation for the generation of intestinal
Organoids and tissues in vitro.[12]

FGF4 Retrogenes

In canines the FGF4 retrogene insertion on chromosome 18 is involved in the short leg phenotype.[13] This is still a member of the FGF4 gene family. Fibroblast Growth Factor 4 is a protein coding gene, meaning it's a structural protein molecule.[14] The biological role that FGF4-18 plays is important in embryological development, specifically appropriate growth. In canines, the developmental structure this retrogene mutation patterning leads to is shortened legs due to the defects in endochondral ossification.These mutations and FGF signaling abnormalities are also linked in humans with dwarfism by preventing bones from growing to the normal length.[13][15] This FGF4 retrogene on not only chromosome 18 but also 12 leads to shortened limbs and abnormal vertebrae associated with intervertebral disc disease. Research done at University of California-Davis has found that FGF4 retrogene on chromosome 12 is also attributed to the short legs and abnormal intervertebral disc that degenerate.[13] This particular FGF4-12 retrogene in canines leads to the short limb phenotype from dysplastic shortened long bones, premature degeneration, and calcification of the intervertebral disc; which gives a susceptibility to IVDD (intervertebral disc disease).[13][15]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000075388Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050917Ensembl, 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. PMID 1611909
    .
  6. ^ a b "Entrez Gene: FGF4 fibroblast growth factor 4 (heparin secretory transforming protein 1, Kaposi sarcoma oncogene)".
  7. ^
    S2CID 31312392
    .
  8. .
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  10. ^ .
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  13. ^ a b c d "Genetic Discovery Finds Dachshunds' Short-Leg Phenotype Linked To IVDD". www.purinaproclub.com. Retrieved 2022-04-13.
  14. ^ "FGFR3 Gene - GeneCards | FGFR3 Protein | FGFR3 Antibody". www.genecards.org. Retrieved 2022-04-13.
  15. ^
    PMID 29073074
    .

Further reading

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