Pathological, physiological, and evolutionary aspects of short unstable DNA repeats in the human genome.

P. Künzler, Koichi Matsuo, W. Schaffner

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

One of the salient features of the mammalian genome is the vast excess of DNA without obvious function, such as repetitive DNAs, spacers, and introns. In recent years, microsatellites, which include short triplet repeats (mostly CAGn and CGGn) and dinucleotide repeats (notably CAn) have gained widespread attention, along with minisatellites which consist of somewhat longer repeat units. Micro- and minisatellites, collectively called variable number tandem repeats (VNTRs), can be highly unstable and display an amazing degree of polymorphism. This property is exploited for gene mapping, for tumor diagnosis, and in forensic medicine. Undue expansion of gene-associated microsatellites is also responsible for some severe genetic diseases, such as fragile X syndrome. Most or all of these diseases are caused by expansion of CAG and CGG triplets. Within protein-coding regions these triplets usually code for polymers of glutamine, serine, alanine or proline. Physiologically, such amino acid repeats are often found in transcription factors and can increase or decrease their activity, depending on the repeat number. Alone or in conjunction with DNA methylation, such repeats may offer a unique opportunity for subtle, semi-stable modulation of gene activity. Also, at least in some plants and perhaps other organisms, a quasi-Lamarckian inheritance is mediated by repetitive DNA. Generally, repetitive DNA sequences, whether represented by short or by long DNA segments, may be beneficial for the evolution of a species.

Original languageEnglish
Pages (from-to)201-211
Number of pages11
JournalBiological Chemistry Hoppe-Seyler
Volume376
Issue number4
Publication statusPublished - 1995 Apr
Externally publishedYes

Fingerprint

Minisatellite Repeats
Human Genome
Microsatellite Repeats
Genes
DNA
Dinucleotide Repeats
Trinucleotide Repeats
Fragile X Syndrome
Inborn Genetic Diseases
Intergenic DNA
Forensic Medicine
Nucleic Acid Repetitive Sequences
Chromosome Mapping
DNA Methylation
Glutamine
Proline
Alanine
Introns
Serine
Open Reading Frames

ASJC Scopus subject areas

  • Biochemistry

Cite this

Pathological, physiological, and evolutionary aspects of short unstable DNA repeats in the human genome. / Künzler, P.; Matsuo, Koichi; Schaffner, W.

In: Biological Chemistry Hoppe-Seyler, Vol. 376, No. 4, 04.1995, p. 201-211.

Research output: Contribution to journalArticle

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