title: Assignment of FGF8 to human chromosome 10q25-q26: mutations in FGF8 may be responsible for some types of acrocephalosyndactyly linked to this region.
abstract: Emerging evidence suggests that Fgf8, a recently identified member of the fibroblast growth factor family, plays an important role in outgrowth and patterning of the face, limbs, and central nervous system of the vertebrate embryo. We report the mapping of FGF8 to human chromosome 10q25-q26, using Southern blot analyses of genomic DNAs from rodent/human somatic cell hybrid lines. Apert, Crouzon, Jackson-Weiss, and Pfeiffer syndromes are craniosynostoses genetically linked in part to 10q25-q26 and are associated with point mutations in the extracellular domain of FGFR2. Given the assignment to the same chromosomeal band(s) as FGFR2 and the probable ligand-receptor relationship of the gene products of FGF8 and FGFR2, we hypothesize that some cases of these craniosynostoses linked to 10q25-q26 that do not have mutations in FGFR2 may involve mutations in FGF8.
authors.affiliation: Section of Genetics, Children's Mercy Hospital, University of Missouri at Kansas City School of Medicine 64108, USA.
authors.forename: R A
authors.initials: RA
authors.lastname: White
authors.forename: L L
authors.initials: LL
authors.lastname: Dowler
authors.forename: S V
authors.initials: SV
authors.lastname: Angeloni
authors.forename: L M
authors.initials: LM
authors.lastname: Pasztor
authors.forename: C A
authors.initials: CA
authors.lastname: MacArthur
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D000818:Animals; D015139:Blotting, Southern; D002879:Chromosomes, Human, Pair 10; D006224:Cricetinae; D051524:Fibroblast Growth Factor 8; D005346:Fibroblast Growth Factors; D006133:Growth Substances / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D051379:Mice; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*
chemical_list: C496456:FGF8 protein, human; C496457:Fgf8 protein, mouse; D006133:Growth Substances; D009363:Neoplasm Proteins; D051524:Fibroblast Growth Factor 8; D005346:Fibroblast Growth Factors