| SP8 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | SP8 , BTD, Sp8 transcription factor | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608306 MGI: 2443471 HomoloGene: 18548 GeneCards: SP8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Transcription factor Sp8 also known as specificity protein 8 (SP-8) or Btd transcription factor (buttonhead) [5] is a protein that in humans is encoded by the SP8 gene. [6] [7] Sp8 is a transcription factor in the Sp/KLF family.
Sp8 mediates limb outgrowth during early development. [5] Sp8 deletion in mice resulted in severe exencephaly. [8] Sp8 is a zinc-finger transcription factor. The structural difference between Sp8 and Sp9 is only one amino acid. These transcription factors are Apical Ectodermal Ridge (AER) specific in limb development. The Apical Ectodermal Ridge signaling is important for specification of distal limb structures. Sp8 and Sp9 mediate Fgf10 signaling, which in turn regulates Fgf8 expression (Fgf10→Fgf8). Fgf8 is essential for normal limb development, and without the presence of Fgf8 in early development, there would be a decreased length of the limb bud and possible failure of the limb tissue develop. Both Sp8 and Sp9 have been found in vertebrates. Although, so far only Sp8 has been proven to be present in invertebrates too. Under lab conditions, Sp8 replaced btd in Drosophila, showing that Sp8 and btd both have similar functions in limb development in both vertebrates and invertebrates. Gene knockdown in zebrafish displayed that Fgf8 expression is necessary for appendage development. [9]
The lateral plate mesoderm is the mesoderm that is found at the periphery of the embryo. It is to the side of the paraxial mesoderm, and further to the axial mesoderm. The lateral plate mesoderm is separated from the paraxial mesoderm by a narrow region of intermediate mesoderm. The mesoderm is the middle layer of the three germ layers, between the outer ectoderm and inner endoderm.
The apical ectodermal ridge (AER) is a structure that forms from the ectodermal cells at the distal end of each limb bud and acts as a major signaling center to ensure proper development of a limb. After the limb bud induces AER formation, the AER and limb mesenchyme—including the zone of polarizing activity (ZPA)—continue to communicate with each other to direct further limb development.
The autoimmune regulator (AIRE) is a protein that in humans is encoded by the AIRE gene. It is a 13kb gene on chromosome 21q22.3 that has 545 amino acids. AIRE is a transcription factor expressed in the medulla of the thymus. It is part of the mechanism which eliminates self-reactive T cells that would cause autoimmune disease. It exposes T cells to normal, healthy proteins from all parts of the body, and T cells that react to those proteins are destroyed.
Limb development in vertebrates is an area of active research in both developmental and evolutionary biology, with much of the latter work focused on the transition from fin to limb.
The limb bud is a structure formed early in vertebrate limb development. As a result of interactions between the ectoderm and underlying mesoderm, formation occurs roughly around the fourth week of development. In the development of the human embryo the upper limb bud appears in the third week and the lower limb bud appears four days later.
Paired box gene 2, also known as Pax-2, is a protein which in humans is encoded by the PAX2 gene.
Nuclear respiratory factor 1, also known as Nrf1, Nrf-1, NRF1 and NRF-1, encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternate transcriptional splice variants, which encode the same protein, have been characterized. Additional variants encoding different protein isoforms have been described but they have not been fully characterized. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor -like 1" which has an official symbol of NFE2L1.
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.
Homeobox protein Nkx-2.5 is a protein that in humans is encoded by the NKX2-5 gene.
Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene.
Fibroblast growth factor 10 is a protein that in humans is encoded by the FGF10 gene.
T-box transcription factor TBX5, is a protein that in humans is encoded by the TBX5 gene. Abnormalities in the TBX5 gene can result in altered limb development, Holt-Oram syndrome, Tetra-amelia syndrome, and cardiac and skeletal problems.
Fibroblast growth factor 8(FGF-8) is a protein that in humans is encoded by the FGF8 gene.
Homeobox protein DLX-5 is a protein that in humans is encoded by the distal-less homeobox 5 gene, or DLX5 gene. DLX5 is a member of the DLX gene family.
Fibroblast growth factor 4 is a protein that in humans is encoded by the FGF4 gene.
Fibroblast growth factor 18 (FGF18) is a protein that is encoded by the Fgf18 gene in humans. The protein was first discovered in 1998, when two newly-identified murine genes Fgf17 and Fgf18 were described and confirmed as being closely related by sequence homology to Fgf8. The three proteins were eventually grouped into the FGF8 subfamily, which contains several of the endocrine FGF superfamily members FGF8, FGF17, and FGF18. Subsequent studies identified FGF18's role in promoting chondrogenesis, and an apparent specific activity for the generation of the hyaline cartilage in articular joints.
T-box transcription factor 2 Tbx2 is a transcription factor that is encoded by the Tbx2 gene on chromosome 17q21-22 in humans. This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. Tbx2 and Tbx3 are the only T-box transcription factors that act as transcriptional repressors rather than transcriptional activators, and are closely related in terms of development and tumorigenesis. This gene plays a significant role in embryonic and fetal development through control of gene expression, and also has implications in various cancers. Tbx2 is associated with numerous signaling pathways, BMP, TGFβ, Wnt, and FGF, which allow for patterning and proliferation during organogenesis in fetal development.
Transcription factor MafF is a bZip Maf transcription factor protein that in humans is encoded by the MAFF gene.
Homeobox protein GBX-2 is a protein that in humans is encoded by the GBX2 gene.
Cereblon is a protein that in humans is encoded by the CRBN gene. The gene that encodes the cereblon protein is found on the human chromosome 3, on the short arm at position p26.3 from base pair 3,190,676 to base pair 3,221,394. CRBN orthologs are highly conserved from plants to humans.
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