Expression pattern analysis of transcribed HERV sequences is complicated by ex vivo recombination
2007

Analysis of HERV-KX Sequences and Their Recombination Patterns

Sample size: 642 publication Evidence: moderate

Author Information

Author(s): Aline Flockerzi, Jochen Maydt, Oliver Frank, Alessia Ruggieri, Esther Maldener, Wolfgang Seifarth, Patrik Medstrand, Thomas Lengauer, Andreas Meyerhans, Christine Leib-Mösch, Eckart Meese, Jens Mayer

Primary Institution: Department of Human Genetics, Medical Faculty, University of Saarland, Homburg, Germany

Hypothesis

Isolating an infectious HERV-K(HML-2) variant from human individuals would be a significant finding for human biology.

Conclusion

HERV-KX sequences are likely products of ex vivo recombination and should be interpreted cautiously when studying HML-2 variants.

Supporting Evidence

  • About 95% of cDNA sequences could be assigned to individual HML-2 proviral loci.
  • HERV-KX sequences displayed on average 37.5 nucleotide differences from their most similar HML-2 locus.
  • RECCO analysis indicated that HERV-KX sequences are due to recombination events.

Takeaway

Scientists found some unusual sequences in human DNA that might be mixed up versions of older sequences, and they need to be careful when studying them.

Methodology

cDNA sequences were amplified by RT-PCR from total RNA isolated from human tissue specimens.

Potential Biases

Potential for misinterpretation of recombination events as new variants.

Limitations

The study does not formally exclude recombinations occurring in vivo.

Participant Demographics

Human tissue specimens from various sources.

Statistical Information

P-Value

0.001

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1742-4690-4-39

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