Molecular mechanisms for CMT1A duplication and HNPP deletion

C. F. Boerkohl, K. Inoue, Lawrence Reiter, L. E. Warner, J. R. Lupski

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

As the best characterized human genomic disorders,118 CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following: (1) Recombination occurs between homologous sequences flanking the duplicated/deleted genomic segment. (2) The evolution of the mammalian genome may result in an architecture consisting of region-specific low-copy repeats that predispose to rearrangement secondary to providing homologous regions as substrate for recombination. (3) Strand exchange occurs preferentially in a region of perfect sequence identity within the flanking repeat sequences. (4) Double-strand breaks likely initiate recombination between the flanking repeats. (5) The mechanism and rate of homologous recombination resulting in DNA rearrangement may differ for male and female gametogenesis. (6) Homologous recombination resulting in DNA rearrangement occurs with high frequency in the human genome. (7) Genomic disorders result from structural features of the human genome and not population specific alleles or founder effects; therefore, genomic disorders appear to occur with equal frequencies in different world populations.

Original languageEnglish (US)
Pages (from-to)22-35
Number of pages14
JournalAnnals of the New York Academy of Sciences
Volume883
StatePublished - Jan 1 1999
Externally publishedYes

Fingerprint

Genetic Recombination
Gene Rearrangement
Genes
Homologous Recombination
Human Genome
Genomic Segmental Duplications
Founder Effect
Gametogenesis
Terminal Repeat Sequences
DNA
Sequence Homology
Population
Alleles
Genome
Substrates
Recombination
Repeats

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science

Cite this

Boerkohl, C. F., Inoue, K., Reiter, L., Warner, L. E., & Lupski, J. R. (1999). Molecular mechanisms for CMT1A duplication and HNPP deletion. Annals of the New York Academy of Sciences, 883, 22-35.

Molecular mechanisms for CMT1A duplication and HNPP deletion. / Boerkohl, C. F.; Inoue, K.; Reiter, Lawrence; Warner, L. E.; Lupski, J. R.

In: Annals of the New York Academy of Sciences, Vol. 883, 01.01.1999, p. 22-35.

Research output: Contribution to journalArticle

Boerkohl, CF, Inoue, K, Reiter, L, Warner, LE & Lupski, JR 1999, 'Molecular mechanisms for CMT1A duplication and HNPP deletion', Annals of the New York Academy of Sciences, vol. 883, pp. 22-35.
Boerkohl, C. F. ; Inoue, K. ; Reiter, Lawrence ; Warner, L. E. ; Lupski, J. R. / Molecular mechanisms for CMT1A duplication and HNPP deletion. In: Annals of the New York Academy of Sciences. 1999 ; Vol. 883. pp. 22-35.
@article{e8e820f6df2b49e78fa5f9c8b4d9db6d,
title = "Molecular mechanisms for CMT1A duplication and HNPP deletion",
abstract = "As the best characterized human genomic disorders,118 CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following: (1) Recombination occurs between homologous sequences flanking the duplicated/deleted genomic segment. (2) The evolution of the mammalian genome may result in an architecture consisting of region-specific low-copy repeats that predispose to rearrangement secondary to providing homologous regions as substrate for recombination. (3) Strand exchange occurs preferentially in a region of perfect sequence identity within the flanking repeat sequences. (4) Double-strand breaks likely initiate recombination between the flanking repeats. (5) The mechanism and rate of homologous recombination resulting in DNA rearrangement may differ for male and female gametogenesis. (6) Homologous recombination resulting in DNA rearrangement occurs with high frequency in the human genome. (7) Genomic disorders result from structural features of the human genome and not population specific alleles or founder effects; therefore, genomic disorders appear to occur with equal frequencies in different world populations.",
author = "Boerkohl, {C. F.} and K. Inoue and Lawrence Reiter and Warner, {L. E.} and Lupski, {J. R.}",
year = "1999",
month = "1",
day = "1",
language = "English (US)",
volume = "883",
pages = "22--35",
journal = "Annals of the New York Academy of Sciences",
issn = "0077-8923",
publisher = "Wiley-Blackwell",

}

TY - JOUR

T1 - Molecular mechanisms for CMT1A duplication and HNPP deletion

AU - Boerkohl, C. F.

AU - Inoue, K.

AU - Reiter, Lawrence

AU - Warner, L. E.

AU - Lupski, J. R.

PY - 1999/1/1

Y1 - 1999/1/1

N2 - As the best characterized human genomic disorders,118 CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following: (1) Recombination occurs between homologous sequences flanking the duplicated/deleted genomic segment. (2) The evolution of the mammalian genome may result in an architecture consisting of region-specific low-copy repeats that predispose to rearrangement secondary to providing homologous regions as substrate for recombination. (3) Strand exchange occurs preferentially in a region of perfect sequence identity within the flanking repeat sequences. (4) Double-strand breaks likely initiate recombination between the flanking repeats. (5) The mechanism and rate of homologous recombination resulting in DNA rearrangement may differ for male and female gametogenesis. (6) Homologous recombination resulting in DNA rearrangement occurs with high frequency in the human genome. (7) Genomic disorders result from structural features of the human genome and not population specific alleles or founder effects; therefore, genomic disorders appear to occur with equal frequencies in different world populations.

AB - As the best characterized human genomic disorders,118 CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following: (1) Recombination occurs between homologous sequences flanking the duplicated/deleted genomic segment. (2) The evolution of the mammalian genome may result in an architecture consisting of region-specific low-copy repeats that predispose to rearrangement secondary to providing homologous regions as substrate for recombination. (3) Strand exchange occurs preferentially in a region of perfect sequence identity within the flanking repeat sequences. (4) Double-strand breaks likely initiate recombination between the flanking repeats. (5) The mechanism and rate of homologous recombination resulting in DNA rearrangement may differ for male and female gametogenesis. (6) Homologous recombination resulting in DNA rearrangement occurs with high frequency in the human genome. (7) Genomic disorders result from structural features of the human genome and not population specific alleles or founder effects; therefore, genomic disorders appear to occur with equal frequencies in different world populations.

UR - http://www.scopus.com/inward/record.url?scp=0033554364&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033554364&partnerID=8YFLogxK

M3 - Article

VL - 883

SP - 22

EP - 35

JO - Annals of the New York Academy of Sciences

JF - Annals of the New York Academy of Sciences

SN - 0077-8923

ER -