Deletion of the paired [alpha]5(IV) and [alpha]6(IV) collagen genes in inherited smooth muscle tumors

Journal Article · Fri Aug 27 00:00:00 EDT 1993 · Science (Washington, D.C.); (United States)

DOI:https://doi.org/10.1126/science.8356449· OSTI ID:5570220

Zhou, J; Mochizuki, T; Reeders, S T ^[1]; Smeets, H ^[2]; Antignac, C ^[3]; Laurila, P ^[4]; Paepe, A de ^[5]; Tryggvason, K ^[6]

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1. Yale Univ., New Haven, CT (United States)
2. University Hospital, Nijmegen (Netherlands)
3. INSERM Unite 192, Paris (France)
4. Univ. of Helsinki, (Finland)
5. University Hosptial, Ghent (Belgium)
6. Univ. of Oulu (Finland)

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.

• OSTI ID: 5570220
• Journal Information: Science (Washington, D.C.); (United States), Vol. 261:5125; ISSN 0036-8075
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
COLLAGEN
GENE MUTATIONS
HUMAN X CHROMOSOME
GENETIC MAPPING
MUSCLES
NEOPLASMS
CHROMOSOMAL ABERRATIONS
MEMBRANES
NEPHRITIS
CHROMOSOMES
DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
ORGANIC COMPOUNDS
PROTEINS
SCLEROPROTEINS
UROGENITAL SYSTEM DISEASES
X CHROMOSOME
550400* - Genetics
550900 - Pathology