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

@article{Segal1999LINE1EA,
  title={LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.},
  author={Yoav Segal and Bernard Peissel and Alessandra Renieri and Mario De Marchi and Andrea Ballabio and Yan Pei and Jing Lin Zhou},
  journal={American journal of human genetics},
  year={1999},
  volume={64 1},
  pages={62-9}
}
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… CONTINUE READING