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Turnpenny, Peter D.; Wright, Michael J.; Sloman, Melissa; Caswell, Richard; van Essen, Anthony J.; Gerkes, Erica; Pfundt, Rolph; White, Susan M.; Shaul-Lotan, Nava; Carpenter, Lori; Schaefer, G. Bradley; Fryer, Alan; Innes, A. Micheil; Forbes, Kirsten P.; Chung, Wendy K.; McLaughlin, Heather; Henderson, Lindsay B.; Roberts, Amy E.; Heath, Karen E.; Paumard-Hernández, Beatriz; Gener, Blanca; Fawcett, Katherine A.; Gjergja-Juraški, Romana; Pilz, Daniela T.; Fry, Andrew E.
American journal of human genetics, 11/2018, Letnik: 103, Številka: 5Journal Article
PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2 is a component of the polycomb repressive complex 1 (PRC1), a multiprotein complex which controls gene silencing through histone modification and chromatin remodelling. We report the phenotypic characterization of 13 patients (11 unrelated individuals and a pair of monozygotic twins) with missense mutations in PCGF2. All the mutations affected the same highly conserved proline in PCGF2 and were de novo, excepting maternal mosaicism in one. The patients demonstrated a recognizable facial gestalt, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Computer structural modeling suggests the substitutions alter an N-terminal loop of PCGF2 critical for histone biding. Mutant PCGF2 may have dominant-negative effects, sequestering PRC1 components into complexes that lack the ability to interact efficiently with histones. These findings demonstrate the important role of PCGF2 in human development and confirm that heterozygous substitutions of the Pro65 residue of PCGF2 cause a recognizable syndrome characterized by distinctive craniofacial, neurological, cardiovascular, and skeletal features.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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