抄録
Chromosomal insertions are rare structural rearrangements, and the molecular mechanisms underlying their origin are unknown. In this study, we used whole genome sequencing to analyze breakpoints and junction sequences in 4 patients with chromosomal insertions. Our analysis revealed that none of the 4 cases involved a simple insertion mediated by a 3-chromosomal breakage and rejoining events. The inserted fragments consisted of multiple pieces derived from a localized genomic region, which were shuffled and rejoined in a disorderly fashion with variable copy number alterations. The junctions were blunt ended or with short microhomologies or short microinsertions, suggesting the involvement of nonhomologous end-joining. In one case, analysis of the parental origin of the chromosomes using nucleotide variations within the insertion revealed that maternal chromosomal segments were inserted into the paternal chromosome. This patient also carried both maternal alleles, suggesting the presence of zygotic trisomy. These data indicate that chromosomal shattering may occur in association with trisomy rescue in the early postzygotic stage.
| 元の言語 | English |
|---|---|
| ページ（範囲） | 1-9 |
| ページ数 | 9 |
| ジャーナル | Cytogenetic and Genome Research |
| 巻 | 153 |
| 発行部数 | 1 |
| DOI | |
| 出版物ステータス | Published - 01-01-2018 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Molecular Biology
- Genetics
- Genetics(clinical)
これを引用
}
Genomic Characterization of Chromosomal Insertions : Insights into the Mechanisms Underlying Chromothripsis. / Kato, Takema; Ouchi, Yuya; Inagaki, Hidehito; Makita, Yoshio; Mizuno, Seiji; Kajita, Mitsuharu; Ikeda, Toshiro; Takeuchi, Kazuhiro; Kurahashi, Hiroki.
：: Cytogenetic and Genome Research, 巻 153, 番号 1, 01.01.2018, p. 1-9.研究成果: Article
TY - JOUR
T1 - Genomic Characterization of Chromosomal Insertions
T2 - Insights into the Mechanisms Underlying Chromothripsis
AU - Kato, Takema
AU - Ouchi, Yuya
AU - Inagaki, Hidehito
AU - Makita, Yoshio
AU - Mizuno, Seiji
AU - Kajita, Mitsuharu
AU - Ikeda, Toshiro
AU - Takeuchi, Kazuhiro
AU - Kurahashi, Hiroki
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Chromosomal insertions are rare structural rearrangements, and the molecular mechanisms underlying their origin are unknown. In this study, we used whole genome sequencing to analyze breakpoints and junction sequences in 4 patients with chromosomal insertions. Our analysis revealed that none of the 4 cases involved a simple insertion mediated by a 3-chromosomal breakage and rejoining events. The inserted fragments consisted of multiple pieces derived from a localized genomic region, which were shuffled and rejoined in a disorderly fashion with variable copy number alterations. The junctions were blunt ended or with short microhomologies or short microinsertions, suggesting the involvement of nonhomologous end-joining. In one case, analysis of the parental origin of the chromosomes using nucleotide variations within the insertion revealed that maternal chromosomal segments were inserted into the paternal chromosome. This patient also carried both maternal alleles, suggesting the presence of zygotic trisomy. These data indicate that chromosomal shattering may occur in association with trisomy rescue in the early postzygotic stage.
AB - Chromosomal insertions are rare structural rearrangements, and the molecular mechanisms underlying their origin are unknown. In this study, we used whole genome sequencing to analyze breakpoints and junction sequences in 4 patients with chromosomal insertions. Our analysis revealed that none of the 4 cases involved a simple insertion mediated by a 3-chromosomal breakage and rejoining events. The inserted fragments consisted of multiple pieces derived from a localized genomic region, which were shuffled and rejoined in a disorderly fashion with variable copy number alterations. The junctions were blunt ended or with short microhomologies or short microinsertions, suggesting the involvement of nonhomologous end-joining. In one case, analysis of the parental origin of the chromosomes using nucleotide variations within the insertion revealed that maternal chromosomal segments were inserted into the paternal chromosome. This patient also carried both maternal alleles, suggesting the presence of zygotic trisomy. These data indicate that chromosomal shattering may occur in association with trisomy rescue in the early postzygotic stage.
UR - http://www.scopus.com/inward/record.url?scp=85032359721&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85032359721&partnerID=8YFLogxK
U2 - 10.1159/000481586
DO - 10.1159/000481586
M3 - Article
C2 - 29073611
AN - SCOPUS:85032359721
VL - 153
SP - 1
EP - 9
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
SN - 1424-8581
IS - 1
ER -