Deletion of the Paired α5(IV) and α6(IV) Collagen Genes in Inherited Smooth Muscle Tumors

• DOI: 10.1126/science.8356449
• Publication Date: 2006-10-05T23:05:09Z
• Authors: Jing Zhou; Toshio Mochizuki; Hubert Smeets; Corinne Antignac; Pekka Laurila; Anne de Paepe; Karl Tryggvason; Stephen T. Reeders
• Keywords: Male; 0301 basic medicine; Base Sequence; Leiomyoma; Genetic Linkage; Molecular Sequence Data; Cell Differentiation; Muscle, Smooth; Nephritis, Hereditary; Exons; 03 medical and health sciences; Fetus; Mutation; Morphogenesis; Humans; Female; Amino Acid Sequence; Collagen; RNA, Messenger; Gene Deletion

The gene encoding α6(IV) collagen, COL4A6 , was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of α5(IV) collagen gene, COL4A5 . In earlier studies, intragenic deletions were detected subset patients with Alport syndrome (AS), hereditary defect basement membranes. some families, AS cosegregates diffuse leiomyomatosis (DL), benign smooth muscle tumor diathesis. Here it is shown that AS-DL harbor disrupt both Thus, type IV may regulate differentiation morphogenesis.