Bioinformatics Database
FGF10: Fibroblast growth factor 10
Cellular Process
Bud stage of tooth development
Gene Name
FGF10: Fibroblast growth factor 10
Gene ID
2255
Gene Sequence
General Description
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing.
Alternative titles; symbols
FGF10
Chromosome
Chromosome 5
Cytogenetic location
5p12
Encoded Protein
Fibroblast growth factor 10 precursor
Function of the protein in oral and tooth development
Fibroblast growth factor (FGF) 3, FGF7 and FGF10, which are expressed by the neural crest-derived ectomesenchymal cells, induce the proliferation of odontogenic epithelial cells during tooth development (Nakao et al, 2013). The studies of Nakao et al, (2013) found that FGF7 and FGF10 are involved in the proliferation of ameloblastoma cells through the MAPK pathway. Runx2 is expressed in the dental mesenchyme at the bud and cap stages and mediates Fgf signaling from the dental epithelium to mesenchyme (D’Souza et al. 1999; Aberg, Wang, et al. 2004). The fibroblast growth factors (FGFs) play a critical role during palatogenesis by mediating a variety of cellular responses. Watanabe et al. (2010) generated compound Fgf8 and Fgf10 mutant mice in the cardiac and pharyngeal mesoderm. They found that pharyngeal arch artery (PAA) development was perturbed by Fgf8 deletion. The frequency and severity of PAA and outflow tract (OFT) defects increased with decreasing expression of Fgf8 and Fgf10.
Dental and Oral Diseases
Aplasia of the lacrimal and major salivary glands (ALSG)
(OMIM: 180920)
Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant inherited disease, characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary systems with variable expressivity.
Lacrimo-auriculo-dento-digital syndrome (LADD)
(OMIM: 149730)
Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006).
Protein Sequence
>NP_004456.1 fibroblast growth factor 10 precursor [Homo sapiens]
MWKWILTHCASAFPHLPGCCCCCFLLLFLVSSVPVTCQALGQDMVSPEATNSSSSSFSSPSSAGRHVRSY
NHLQGDVRWRKLFSFTKYFLKIEKNGKVSGTKKENCPYSILEITSVEIGVVAVKAINSNYYLAMNKKGKL
YGSKEFNNDCKLKERIEENGYNTYASFNWQHNGRQMYVALNGKGAPRRGQKTRRKNTSAHFLPMVVHS
Mutations
Aplasia of the lacrimal and major salivary glands (ALSG):
ARG193TER: In 4 affected members spanning 3 successive generations of a Swedish family with aplasia of lacrimal and salivary glands, Entesarian et al. (2005) identified a heterozygous 577C-T transition in exon 3 of the FGF10 gene, resulting in an arg193-to-ter (R193X) substitution and a truncated protein.
53-KB DEL: In 12 affected members, including 6 different sibships, spanning 4 generations of a Swedish family with aplasia of lacrimal and salivary glands, Entesarian et al. (2005) identified a 53-kb deletion in the FGF10 gene that included exons 2 and 3 and did not involve any flanking genes.
ARG80SER: In a 3-year-old Caucasian boy with aplasia of lacrimal and salivary glands, Entesarian et al. (2007) identified a heterozygous 240A-C transversion in exon 1 of the FGF10 gene, predicted to result in an arg80-to-ser (R80S) substitution at a highly conserved residue.
GLY138GLU: In a 4-year-old Caucasian boy with aplasia of lacrimal and salivary glands, Entesarian et al. (2007) identified a de novo heterozygous 413G-A transition in exon 2 of the FGF10 gene, resulting in a gly138-to-glu (G138E) substitution at a highly conserved residue.
LADD Syndrome:
ILE156ARG: In a girl with LADD syndrome , Milunsky et al. (2006) identified a heterozygous de novo 467T-G transversion in exon 3 of the FGF10 gene, resulting in an ile156-to-arg (I156R) substitution in the middle of 1 of the sites for the interaction between FGF10 and the b isoform of FGFR2 (176943). The mutation was not detected in either parent or in 500 control chromosomes.
LYS137TER: In a mother with aplasia of lacrimal and salivary glands (ALSG; 180920) and her daughter with LADD syndrome, Milunsky et al. (2006) identified a heterozygous 409A-T transversion in exon 2 of the FGF10 gene, resulting in a lys137-to-ter (K137X) substitution.
Related Literature
Watanabe et al, (2010). https://doi.org/10.1161/CIRCRESAHA.109.201665
Aberg et al, (2004). https://doi.org/10.1016/j.ydbio.2004.02.012
D'Souza et al, (1999). https://doi.org/10.1242/dev.126.13.2911
Nakao et al, (2013). https://doi.org/10.3892/ijo.2013.2081
Rohmann et al. (2006). https://doi.org/10.1038/ng1757
Entesarian et al., (2005). https://doi.org/10.1038/ng1507
Milunsky et al., (2006). https://doi.org/10.1111/j.1399-0004.2006.00597.x
