Deletions encompassing the 5' termini of the paired type IV collagen genes COL4A5 and COL4A6 on chromosome Xq22 give rise to Alport syndrome (AS) and associated diffuse leiomyomatosis (DL), a syndrome of disseminated smooth-muscle tumors involving the esophagus, large airways, and female reproductive tract. In this study, we report isolation and characterization of two deletion junctions. The first, in a patient described elsewhere, arose by a nonhomologous recombination event fusing a LINE-1 (L1) repetitive element in intron 1 of COL4A5 to intron 2 of COL4A6, resulting in a 13.4-kb deletion. The second, in a previously undescribed family, arose by unequal homologous recombination between the same L1 and a colinear L1 element in intron 2 of COL4A6, resulting in a>40-kb deletion. L1 elements have contributed to the emergence of this locus as a site of frequent recombinations by diverse mechanisms. These give rise to AS-DL by disruption of type IV collagen and perhaps other as yet unidentified genes, evidenced by deletions as small as 13.4 kb.
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|Titolo:||LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome-Diffuse Leiomyomatosis|
|Rivista:||AMERICAN JOURNAL OF HUMAN GENETICS|
|Citazione:||Segal, Y., Peissel, B., Renieri, A., DE MARCHI, M., Ballabio, A., Pei, Y., et al. (1999). LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome-Diffuse Leiomyomatosis. AMERICAN JOURNAL OF HUMAN GENETICS, 64(1), 62-69.|
|Appare nelle tipologie:||1.1 Articolo in rivista|