title: Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
abstract: The gene encoding alpha 6(IV) collagen, COL4A6, was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of the alpha 5(IV) collagen gene, COL4A5. In earlier studies, intragenic deletions of COL4A5 were detected in a subset of patients with Alport syndrome (AS), a hereditary defect of basement membranes. In some families, AS cosegregates with diffuse leiomyomatosis (DL), a benign smooth muscle tumor diathesis. Here it is shown that patients with AS-DL harbor deletions that disrupt both COL4A5 and COL4A6. Thus, type IV collagen may regulate smooth muscle differentiation and morphogenesis.
authors.affiliation: Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06536-0812.
authors.forename: J
authors.initials: J
authors.lastname: Zhou
authors.forename: T
authors.initials: T
authors.lastname: Mochizuki
authors.forename: H
authors.initials: H
authors.lastname: Smeets
authors.forename: C
authors.initials: C
authors.lastname: Antignac
authors.forename: P
authors.initials: P
authors.lastname: Laurila
authors.forename: A
authors.initials: A
authors.lastname: de Paepe
authors.forename: K
authors.initials: K
authors.lastname: Tryggvason
authors.forename: S T
authors.initials: ST
authors.lastname: Reeders
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002454:Cell Differentiation; D003094:Collagen / Q000737:chemistry / Q000235:genetics*; D005091:Exons; D005260:Female; D005333:Fetus / Q000378:metabolism; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009024:Morphogenesis; D009130:Muscle, Smooth / Q000166:cytology; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D003094:Collagen