Abstract
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 language | English (US) |
|---|---|
| Pages (from-to) | 62-69 |
| Number of pages | 8 |
| Journal | American Journal of Human Genetics |
| Volume | 64 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 1999 |
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LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. / Segal, Yoav; Peissel, Bernard; Renieri, Alessandra; De Marchi, Mario; Ballabio, Andrea; Pei, York; Zhou, Jing.
In: American Journal of Human Genetics, Vol. 64, No. 1, 01.01.1999, p. 62-69.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis
AU - Segal, Yoav
AU - Peissel, Bernard
AU - Renieri, Alessandra
AU - De Marchi, Mario
AU - Ballabio, Andrea
AU - Pei, York
AU - Zhou, Jing
PY - 1999/1/1
Y1 - 1999/1/1
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=0033361022&partnerID=8YFLogxK
U2 - 10.1086/302213
DO - 10.1086/302213
M3 - Article
VL - 64
SP - 62
EP - 69
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 1
ER -