Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently... INTRODUCTIONReciprocal balanced translocations are prevalent chromosomal aberrations with the incidence of c. 1:600 births. At least 6% of balanced translocations cause diseases (Warburton, ). Reciprocal translocations are nonrandomly distributed in the human genome due to selective advantage and more frequent potential of some DNA sequences to mediate breakage and recombination. The involvement of multiple mechanisms in the DNA breakage and repair process have been proposed. These mechanisms include (1) nonallelic homologous recombination (NAHR), (2) nonhomologous end joining (NHEJ), (3) microhomology‐mediated break‐induced replication (MMBIR), and (4) fork stalling and template switching (FoSTeS) (Gajecka et al., ; Gu, Zhang, & Lupski, ). Breakpoint analysis of disease‐associated rearrangements can elucidate the etiology and molecular mechanisms associated with disease phenotypes.Cerebral infarction, or stroke, is a major cause of morbidity and death with a considerable economic burden to the modern society. It is a late‐onset, complex multifactorial disease; however, it can be a manifestation of a number of monogenic disorders that may boost the research toward treatments. Epidemiological studies and animal models strongly suggest genetic influences in the pathogenesis. Recent association studies on stroke have implicated several loci including HDAC9 (OMIM *606543), PITX2 (OMIM *601542), ZFHX3 (OMIM *104155), NINJ2 (OMIM *607297), 9q21, KRTDAP (OMIM *617212), http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular Genetics & Genomic Medicine Wiley

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 John Wiley & Sons Ltd.
ISSN
2324-9269
eISSN
2324-9269
D.O.I.
10.1002/mgg3.346
Publisher site
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Abstract

INTRODUCTIONReciprocal balanced translocations are prevalent chromosomal aberrations with the incidence of c. 1:600 births. At least 6% of balanced translocations cause diseases (Warburton, ). Reciprocal translocations are nonrandomly distributed in the human genome due to selective advantage and more frequent potential of some DNA sequences to mediate breakage and recombination. The involvement of multiple mechanisms in the DNA breakage and repair process have been proposed. These mechanisms include (1) nonallelic homologous recombination (NAHR), (2) nonhomologous end joining (NHEJ), (3) microhomology‐mediated break‐induced replication (MMBIR), and (4) fork stalling and template switching (FoSTeS) (Gajecka et al., ; Gu, Zhang, & Lupski, ). Breakpoint analysis of disease‐associated rearrangements can elucidate the etiology and molecular mechanisms associated with disease phenotypes.Cerebral infarction, or stroke, is a major cause of morbidity and death with a considerable economic burden to the modern society. It is a late‐onset, complex multifactorial disease; however, it can be a manifestation of a number of monogenic disorders that may boost the research toward treatments. Epidemiological studies and animal models strongly suggest genetic influences in the pathogenesis. Recent association studies on stroke have implicated several loci including HDAC9 (OMIM *606543), PITX2 (OMIM *601542), ZFHX3 (OMIM *104155), NINJ2 (OMIM *607297), 9q21, KRTDAP (OMIM *617212),

Journal

Molecular Genetics & Genomic MedicineWiley

Published: Jan 1, 2018

Keywords: ; ; ; ;

References

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