title: A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation.
abstract: Several features of the pigment defect in belted (bt) mutant mice suggest that it occurs as a result of a defect in melanocyte development that is unique from those described for other classical white-spotting mutations. We report here that bt mice carry mutations in Adamts20, a novel member of the ADAMTS family of secreted metalloproteases. Adamts20 shows a highly dynamic pattern of expression in the developing embryo that generally precedes the appearance of melanoblasts in the same region, and is not expressed in the migrating cells themselves. Adamts20 shows remarkable homology with GON-1, an ADAMTS family protease required for distal tip cell migration in C. elegans. Our results suggest that the role of ADAMTS proteases in the regulation of cell migration has been conserved in mammalian development.
authors.affiliation: Genetics Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02476, USA.
authors.forename: Cherie
authors.initials: C
authors.lastname: Rao
authors.forename: Dorothee
authors.initials: D
authors.lastname: Foernzler
authors.forename: Stacie K
authors.initials: SK
authors.lastname: Loftus
authors.forename: Shanming
authors.initials: S
authors.lastname: Liu
authors.forename: John D
authors.initials: JD
authors.lastname: McPherson
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Jungers
authors.forename: Suneel S
authors.initials: SS
authors.lastname: Apte
authors.forename: William J
authors.initials: WJ
authors.lastname: Pavan
authors.forename: David R
authors.initials: DR
authors.lastname: Beier
mesh_terms: D051722:ADAM Proteins; D000071096:ADAMTS Proteins; D000818:Animals; D002465:Cell Movement / Q000502:physiology; D019483:Disintegrins / Q000737:chemistry / Q000145:classification / Q000235:genetics / Q000378:metabolism*; D004622:Embryo, Mammalian / Q000502:physiology; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D017403:In Situ Hybridization; D008544:Melanocytes / Q000502:physiology*; D008666:Metalloendopeptidases / Q000737:chemistry / Q000145:classification / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D008810:Mice, Inbred C57BL; D009154:Mutation; D010802:Phylogeny; D010858:Pigmentation / Q000235:genetics; D012867:Skin / Q000166:cytology / Q000254:growth & development / Q000378:metabolism
chemical_list: D019483:Disintegrins; D051722:ADAM Proteins; D000071096:ADAMTS Proteins; C479569:Adamts20 protein, mouse; D008666:Metalloendopeptidases