A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development.

@article{Johansson2021ACS,
  title={A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development.},
  author={Pia Annette Johansson and Per Ludvik Bratt{\aa}s and Christopher H. Douse and Pinghsun Hsieh and Anita Adami and Julien Pontis and Daniela Grassi and Raquel Garza and Edoardo Sozzi and Rodrigo Cataldo and Marie E. J{\"o}nsson and Diahann A.M. Atacho and Karolina Pircs and Feride Eren and Yogita Sharma and Jenny G Johansson and Alessandro Fiorenzano and Malin Parmar and Malin Fex and Didier Trono and Evan E. Eichler and Johan Jakobsson},
  journal={Cell stem cell},
  year={2021}
}

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References

SHOWING 1-10 OF 108 REFERENCES

Widespread correlation of KRAB zinc finger protein binding with brain-developmental gene expression patterns

It is shown that KZNFs have the ability to regulate gene expression in the human brain in a region-specific manner, and predicts that gene expression networks have been repeatedly innovated throughout primate evolution, continuously gaining new layers of gene regulation mediated by both TEs and KZ NFs in the authors' genome.

Differences in human and chimpanzee gene expression patterns define an evolving network of transcription factors in brain

It is suggested that concerted changes in a relatively small number of interacting TFs may coordinate major gene expression differences in human and chimpanzee brain.

Rapid sequence and expression divergence suggest selection for novel function in primate-specific KRAB-ZNF genes.

Data indicate that a substantial fraction of the recently evolved primate-specific KRAB-ZNF gene duplicates have acquired novel functions that may possibly define novel regulatory pathways and suggest an active ongoing selection for regulatory diversity in primates.

Adaptive Evolution in Zinc Finger Transcription Factors

Investigation of adaptive evolution among recent paralogs using d(N)/d(S) analysis indicates that a major component of the selective pressure acting on these genes has been positive selection to change their DNA-binding specificity.

KRAB zinc-finger proteins contribute to the evolution of gene regulatory networks

It is demonstrated that KZFPs partner with transposable elements to build a largely species-restricted layer of epigenetic regulation and exploit evolutionarily conserved fragments of transposability elements as regulatory platforms long after the arms race against these genetic invaders has ended.

Transposable Elements and Their KRAB-ZFP Controllers Regulate Gene Expression in Adult Tissues.

...