Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

被引：22

作者：

van Heesch, Sebastiaan ^{[1
,2
]}

Simonis, Marieke ^{[1
,2
]}

van Roosmalen, Markus J. ^{[3
]}

Pillalamarri, Vamsee ^{[4
]}

Brand, Harrison ^{[4
]}

Kuijk, Ewart W. ^{[1
,2
]}

de Luca, Kim L. ^{[1
,2
]}

Lansu, Nico ^{[1
,2
]}

Braat, A. Koen ^{[5
]}

Menelaou, Androniki ^{[3
]}

Hao, Wensi ^{[1
,2
]}

Korving, Jeroen ^{[1
,2
]}

Snijder, Simone ^{[6
]}

van der Veken, Lars T. ^{[3
]}

Hochstenbach, Ron ^{[3
]}

Knegt, Alida C. ^{[6
]}

Duran, Karen ^{[3
]}

Renkens, Ivo ^{[3
]}

Alekozai, Najla ^{[3
]}

Jager, Myrthe ^{[3
]}

Vergult, Sarah ^{[7
]}

Menten, Bjoern ^{[7
]}

de Bruijn, Ewart ^{[1
,2
]}

Boymans, Sander ^{[1
,2
]}

Ippel, Elly ^{[3
]}

van Binsbergen, Ellen ^{[3
]}

Talkowski, Michael E. ^{[4
]}

Lichtenbelt, Klaske ^{[3
]}

Cuppen, Edwin ^{[1
,2
,3
]}

Kloosterman, Wigard P. ^{[3
]}

机构：

[1] Hubrecht Inst KNAW, NL-3584 CT Utrecht, Netherlands

[2] Univ Med Ctr Utrecht, NL-3584 CT Utrecht, Netherlands

[3] Univ Med Ctr Utrecht, Ctr Mol Med, Dept Med Genet, NL-3584 CG Utrecht, Netherlands

[4] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

[5] Univ Med Ctr Utrecht, Ctr Mol Med, Dept Cell Biol, NL-3584 CX Utrecht, Netherlands

[6] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[7] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

来源：

CELL REPORTS | 2014年 / 9卷 / 06期

关键词：

AUTISM SPECTRUM DISORDERS; COPY NUMBER VARIATION; PROSTATE-CANCER; DE-NOVO; STRUCTURAL VARIATION; GENE FUSIONS; REPAIR; ETV1; IDENTIFICATION; ABNORMALITIES;

D O I：

10.1016/j.celrep.2014.11.022

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and drive formation of fusion genes similar to those described in cancer. Subsequent analysis of a large set of 552 de novo germline genomic rearrangements underlying congenital disorders revealed enrichment for genes rearranged in cancer and overlap with somatic cancer breakpoints. Breakpoints of common (inherited) germline structural variations also overlap with cancer breakpoints but are depleted for cancer genes. We propose that the same genomic positions are prone to genomic rearrangements in germline and soma but that timing and context of breakage determines whether developmental defects or cancer are promoted.

引用

页码：2001 / 2010

页数：10

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