Identification of the Imprinted KLF14 Transcription Factor Undergoing Human-Specific Accelerated Evolution
2007

Discovery of the KLF14 Gene and Its Rapid Evolution in Humans

Sample size: 704 publication 10 minutes Evidence: moderate

Author Information

Author(s): Parker-Katiraee Layla, Carson Andrew R, Yamada Takahiro, Arnaud Philippe, Feil Robert, Abu-Amero Sayeda N, Moore Gudrun E, Kaneda Masahiro, Perry George H, Stone Anne C, Lee Charles, Meguro-Horike Makiko, Sasaki Hiroyuki, Kobayashi Keiko, Nakabayashi Kazuhiko, Scherer Stephen W

Primary Institution: The Hospital for Sick Children, Toronto, Ontario, Canada

Hypothesis

Is the KLF14 gene imprinted and undergoing accelerated evolution in humans?

Conclusion

KLF14 is an imprinted gene with maternal expression that has undergone accelerated evolution in the human lineage.

Supporting Evidence

  • KLF14 shows monoallelic maternal expression in human and mouse tissues.
  • Greater variability in KLF14 was observed in the human lineage compared to other species.
  • Imprinting of KLF14 is maintained despite the absence of typical epigenetic features.

Takeaway

Scientists found a gene called KLF14 that is only active from the mom's side and has changed quickly in humans compared to other animals.

Methodology

The study involved imprinting analyses, expression studies in various tissues, and evolutionary sequence analysis across species.

Limitations

The study did not identify mutations specific to disorders like autism or Russell-Silver Syndrome, and the small size of KLF14 may limit the detection of positive selection.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.0030065

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