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Mini- and Micro-Satellite Markers in Health, Disease and Evolution

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Genomic Elements in Health, Disease and Evolution

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Abstract

DNA repeat motifs are common in eukaryotic and in prokaryotic organisms classified as interspersed, which originate mainly from transposons and tandem repeats. Tandem repeats (TRs) occur in DNA when a pattern of one, two or more nucleotides is repeated in a sequential and consistent way. Among the most prominent TRs with involvement in evolution, health and disease are the microsatellites and the minisatellites. They differ from the other repetitive DNA sequences in many ways that provide them with properties useful for medical genetic diagnosis, prognosis and screening. Paternity testing and linkage to genes were among the most frequent applications of satellite repeat length determination. During the last three decades other very significant applications of microsatellites emerged for the diagnosis of abnormal expansions in mental retardation and in the neurodegenerative disorders. The human genome project also provided information for more TRs that can be used in cancer DNA and other analyses concerning inter- and intra- individual variations.

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Abbreviations

CNS:

Central nervous system

CNVs:

Copy number variations

DSBs:

Double strand breaks

FSHD:

Facioscapulohumeral muscular dystrophy

G4:

G-quadruplex

HD or HTT:

Huntington disease

HERVs:

Human endogenous retroviruses

HNPCC:

Hereditary non-polyposis colorectal cancer

HVR:

Hypervariable

LINEs:

Long interspersed elements

LP-BER:

Long-patch base excision repair

LTRs:

Long repetitive sequences

MD:

Myotonic dystrophy

MMR:

Mismatch repair

MSI:

Microsatellite instability

NAHR:

Non-allelic homologous recombination

Nt:

Nucleotides

ORFs:

Open reading frames

PABPs:

Poly(A) binding proteins

SBMA:

Spinobulbar muscular atrophy or Kennedy disease

SCA:

Spinocerebellar ataxia

SCA8:

Spinocerebellar ataxia type 8

SINEs:

Short interspersed elements

SN-BER:

Single nucleotide-base excision repair

SNPs:

Single nucleotide polymorphisms

SSRs:

Simple sequence repeats or STRs: short tandem repeats

SVAs:

SINE-VNTR -ALUs

TEs:

Transposable elements

TNR:

Trinucleotide repeat

TREDs:

Trinucleotide repeat expansion disorders

TRs:

Tandem repeats

VNTRs:

Variable number tandem repeats

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Authors and Affiliations

  1. Department of Anatomy – Histology – Embryology, University of Ioannina, Ioannina, 45110, Epirus, Greece

    Vasiliki A. Galani Ph.D.

  2. Department of Neurology, University Hospital of Ioannina, Ioannina, 45110, Epirus, Greece

    Sofia Markoula M.D., Ph.D.

  3. Division of Reproductive Genetics, Department of Obstetrics & Gynecology, University of Ioannina, Ioannina, 45110, Epirus, Greece

    Leandros Lazaros Ph.D., Paris Ladias B.Sc. & Ioannis Georgiou Ph.D.

  4. Laboratory of Medical Genetics and Clinical Embryology, Department of Obstetrics & Gynecology, University Hospital of Ioannina, Ioannina, 45110, Epirus, Greece

    Leandros Lazaros Ph.D.

  5. Division of Medical Genetics and Clinical Embryology, Department of Obstetrics & Gynecology, University Hospital of Ioannina, Ioannina, 45110, Epirus, Greece

    Ioannis Georgiou Ph.D.

Authors
  1. Vasiliki A. Galani Ph.D.
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  2. Sofia Markoula M.D., Ph.D.
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  3. Leandros Lazaros Ph.D.
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  4. Paris Ladias B.Sc.
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  5. Ioannis Georgiou Ph.D.
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Correspondence to Ioannis Georgiou Ph.D. .

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Editors and Affiliations

  1. Department of Life and Health Sciences and University of Nicosia Medical School, University of Nicosia, Nicosia, Cyprus

    Kyriacos Felekkis

  2. Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus

    Konstantinos Voskarides

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Galani, V.A., Markoula, S., Lazaros, L., Ladias, P., Georgiou, I. (2015). Mini- and Micro-Satellite Markers in Health, Disease and Evolution. In: Felekkis, K., Voskarides, K. (eds) Genomic Elements in Health, Disease and Evolution. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-3070-8_7

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