DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion

Vladimir N. Potaman, Malgorzata J. Pytlos, Vera I. Hashem, John Bissler, Michael Leffak, Richard R. Sinden

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Citations (Scopus)

Abstract

This chapter discusses DNA structure and genetic instabilities associated with on spinocerebellar ataxia type 10 (ATTCT)n ·(AGAAT)n repeats. SCA10 is associated with expansion from a normal range of 10 to 22 10 (ATTCT)n·(AGAAT)n pentanucleotide repeats to as many as 4,500 repeats that forms an unpaired region, which then extends into adjacent A + T-rich flanking sequences. For plasmids containing 29 repeats, above the normal human size range, a locally condensed structure formed at high superhelical densities. Although the structure is "condensed," the bases remained unpaired. The pentanucleotide repeat exhibits unusual characteristics when grown in E coli. The (ATTCT)n ·(AGAAT)n repeats do not undergo deletion at a high rate, and unlike trinucleotide repeats that are rapidly deleted in E. coli, (ATTCT)n ·(AGAAT)n repeats undergo expansion associated with a complex mutational event upon prolonged growth in E. coli. The complex mutations involved both plasmid dimerization and inversion of a part of the repeat tract forms an inverted repeat. The results are consistent with a high frequency of primer-template misalignment during DNA replication.

Original languageEnglish (US)
Title of host publicationGenetic Instabilities and Neurological Diseases, Second Edition
PublisherElsevier Inc.
Pages447-460
Number of pages14
ISBN (Print)9780123694621
DOIs
StatePublished - Dec 1 2006

Fingerprint

Genetic Structures
Escherichia coli
Amplification
Microsatellite Repeats
DNA
Plasmids
Trinucleotide Repeats
Dimerization
DNA Replication
Reference Values
Mutation
Growth
Spinocerebellar Ataxia 10

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Potaman, V. N., Pytlos, M. J., Hashem, V. I., Bissler, J., Leffak, M., & Sinden, R. R. (2006). DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion. In Genetic Instabilities and Neurological Diseases, Second Edition (pp. 447-460). Elsevier Inc.. https://doi.org/10.1016/B978-012369462-1/50031-4

DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion. / Potaman, Vladimir N.; Pytlos, Malgorzata J.; Hashem, Vera I.; Bissler, John; Leffak, Michael; Sinden, Richard R.

Genetic Instabilities and Neurological Diseases, Second Edition. Elsevier Inc., 2006. p. 447-460.

Research output: Chapter in Book/Report/Conference proceedingChapter

Potaman, VN, Pytlos, MJ, Hashem, VI, Bissler, J, Leffak, M & Sinden, RR 2006, DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion. in Genetic Instabilities and Neurological Diseases, Second Edition. Elsevier Inc., pp. 447-460. https://doi.org/10.1016/B978-012369462-1/50031-4
Potaman VN, Pytlos MJ, Hashem VI, Bissler J, Leffak M, Sinden RR. DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion. In Genetic Instabilities and Neurological Diseases, Second Edition. Elsevier Inc. 2006. p. 447-460 https://doi.org/10.1016/B978-012369462-1/50031-4
Potaman, Vladimir N. ; Pytlos, Malgorzata J. ; Hashem, Vera I. ; Bissler, John ; Leffak, Michael ; Sinden, Richard R. / DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion. Genetic Instabilities and Neurological Diseases, Second Edition. Elsevier Inc., 2006. pp. 447-460
@inbook{d88bec16464942928ece8f3d760f65d9,
title = "DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion",
abstract = "This chapter discusses DNA structure and genetic instabilities associated with on spinocerebellar ataxia type 10 (ATTCT)n ·(AGAAT)n repeats. SCA10 is associated with expansion from a normal range of 10 to 22 10 (ATTCT)n·(AGAAT)n pentanucleotide repeats to as many as 4,500 repeats that forms an unpaired region, which then extends into adjacent A + T-rich flanking sequences. For plasmids containing 29 repeats, above the normal human size range, a locally condensed structure formed at high superhelical densities. Although the structure is {"}condensed,{"} the bases remained unpaired. The pentanucleotide repeat exhibits unusual characteristics when grown in E coli. The (ATTCT)n ·(AGAAT)n repeats do not undergo deletion at a high rate, and unlike trinucleotide repeats that are rapidly deleted in E. coli, (ATTCT)n ·(AGAAT)n repeats undergo expansion associated with a complex mutational event upon prolonged growth in E. coli. The complex mutations involved both plasmid dimerization and inversion of a part of the repeat tract forms an inverted repeat. The results are consistent with a high frequency of primer-template misalignment during DNA replication.",
author = "Potaman, {Vladimir N.} and Pytlos, {Malgorzata J.} and Hashem, {Vera I.} and John Bissler and Michael Leffak and Sinden, {Richard R.}",
year = "2006",
month = "12",
day = "1",
doi = "10.1016/B978-012369462-1/50031-4",
language = "English (US)",
isbn = "9780123694621",
pages = "447--460",
booktitle = "Genetic Instabilities and Neurological Diseases, Second Edition",
publisher = "Elsevier Inc.",
address = "United States",

}

TY - CHAP

T1 - DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion

AU - Potaman, Vladimir N.

AU - Pytlos, Malgorzata J.

AU - Hashem, Vera I.

AU - Bissler, John

AU - Leffak, Michael

AU - Sinden, Richard R.

PY - 2006/12/1

Y1 - 2006/12/1

N2 - This chapter discusses DNA structure and genetic instabilities associated with on spinocerebellar ataxia type 10 (ATTCT)n ·(AGAAT)n repeats. SCA10 is associated with expansion from a normal range of 10 to 22 10 (ATTCT)n·(AGAAT)n pentanucleotide repeats to as many as 4,500 repeats that forms an unpaired region, which then extends into adjacent A + T-rich flanking sequences. For plasmids containing 29 repeats, above the normal human size range, a locally condensed structure formed at high superhelical densities. Although the structure is "condensed," the bases remained unpaired. The pentanucleotide repeat exhibits unusual characteristics when grown in E coli. The (ATTCT)n ·(AGAAT)n repeats do not undergo deletion at a high rate, and unlike trinucleotide repeats that are rapidly deleted in E. coli, (ATTCT)n ·(AGAAT)n repeats undergo expansion associated with a complex mutational event upon prolonged growth in E. coli. The complex mutations involved both plasmid dimerization and inversion of a part of the repeat tract forms an inverted repeat. The results are consistent with a high frequency of primer-template misalignment during DNA replication.

AB - This chapter discusses DNA structure and genetic instabilities associated with on spinocerebellar ataxia type 10 (ATTCT)n ·(AGAAT)n repeats. SCA10 is associated with expansion from a normal range of 10 to 22 10 (ATTCT)n·(AGAAT)n pentanucleotide repeats to as many as 4,500 repeats that forms an unpaired region, which then extends into adjacent A + T-rich flanking sequences. For plasmids containing 29 repeats, above the normal human size range, a locally condensed structure formed at high superhelical densities. Although the structure is "condensed," the bases remained unpaired. The pentanucleotide repeat exhibits unusual characteristics when grown in E coli. The (ATTCT)n ·(AGAAT)n repeats do not undergo deletion at a high rate, and unlike trinucleotide repeats that are rapidly deleted in E. coli, (ATTCT)n ·(AGAAT)n repeats undergo expansion associated with a complex mutational event upon prolonged growth in E. coli. The complex mutations involved both plasmid dimerization and inversion of a part of the repeat tract forms an inverted repeat. The results are consistent with a high frequency of primer-template misalignment during DNA replication.

UR - http://www.scopus.com/inward/record.url?scp=84882468921&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84882468921&partnerID=8YFLogxK

U2 - 10.1016/B978-012369462-1/50031-4

DO - 10.1016/B978-012369462-1/50031-4

M3 - Chapter

SN - 9780123694621

SP - 447

EP - 460

BT - Genetic Instabilities and Neurological Diseases, Second Edition

PB - Elsevier Inc.

ER -