Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
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.
Zhou
J
J
Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06536-0812.
Mochizuki
T
T
Smeets
H
H
Antignac
C
C
Laurila
P
P
de Paepe
A
A
Tryggvason
K
K
Reeders
S T
ST
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
D012333:RNA, Messenger; D003094:Collagen