LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

Yoav Segal, Bernard Peissel, Alessandra Renieri, Mario De Marchi, Andrea Ballabio, York Pei, Jing Zhou

Research output: Contribution to journalArticlepeer-review

93 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)62-69
Number of pages8
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - 1999

Bibliographical note

Funding Information:
This work was supported by National Institutes of Health grants to Y.S. and J.Z. We thank Dr. Stephen T. Reeders for helpful discussions.

Copyright 2017 Elsevier B.V., All rights reserved.

Fingerprint Dive into the research topics of 'LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis'. Together they form a unique fingerprint.

Cite this