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Pregled bibliografske jedinice broj: 1034535

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

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 et al.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features // American journal of human genetics, 103 (2018), 5; 786-793 doi:10.1016/j.ajhg.2018.09.012 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1034535 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Autori
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.

Izvornik
American journal of human genetics (0002-9297) 103 (2018), 5; 786-793

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
PCGF2 ; Polycomb Group Ring Finger 2 ; MEL18 ; intellectual disability ; dysmorphism ; polymicrogyria

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Osijek

Profili:

Avatar Url Romana Gjergja Juraški (autor)

Poveznice na cjeloviti tekst rada:

doi www.sciencedirect.com

Citiraj ovu publikaciju:

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 et al.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features // American journal of human genetics, 103 (2018), 5; 786-793 doi:10.1016/j.ajhg.2018.09.012 (međunarodna recenzija, članak, znanstveni)
Turnpenny, P., Wright, M., Sloman, M., Caswell, R., van Essen, A., Gerkes, E., Pfundt, R., White, S., Shaul-Lotan, N. & Carpenter, L. (2018) Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. American journal of human genetics, 103 (5), 786-793 doi:10.1016/j.ajhg.2018.09.012.
@article{article, author = {Turnpenny, Peter D. and Wright, Michael J. and Sloman, Melissa and Caswell, Richard and van Essen, Anthony J. and Gerkes, Erica and Pfundt, Rolph and White, Susan M. and Shaul-Lotan, Nava and Carpenter, Lori and Schaefer, G. Bradley and Fryer, Alan and Innes, A. Micheil and Forbes, Kirsten P. and Chung, Wendy K. and McLaughlin, Heather and Henderson, Lindsay B. and Roberts, Amy E. and Heath, Karen E. and Paumard-Hern\'{a}ndez, Beatriz and Gener, Blanca and Fawcett, Katherine A. and Gjergja-Jura\v{s}ki, Romana and Pilz, Daniela T. and Fry, Andrew E.}, year = {2018}, pages = {786-793}, DOI = {10.1016/j.ajhg.2018.09.012}, keywords = {PCGF2, Polycomb Group Ring Finger 2, MEL18, intellectual disability, dysmorphism, polymicrogyria}, journal = {American journal of human genetics}, doi = {10.1016/j.ajhg.2018.09.012}, volume = {103}, number = {5}, issn = {0002-9297}, title = {Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features}, keyword = {PCGF2, Polycomb Group Ring Finger 2, MEL18, intellectual disability, dysmorphism, polymicrogyria} }
@article{article, author = {Turnpenny, Peter D. and Wright, Michael J. and Sloman, Melissa and Caswell, Richard and van Essen, Anthony J. and Gerkes, Erica and Pfundt, Rolph and White, Susan M. and Shaul-Lotan, Nava and Carpenter, Lori and Schaefer, G. Bradley and Fryer, Alan and Innes, A. Micheil and Forbes, Kirsten P. and Chung, Wendy K. and McLaughlin, Heather and Henderson, Lindsay B. and Roberts, Amy E. and Heath, Karen E. and Paumard-Hern\'{a}ndez, Beatriz and Gener, Blanca and Fawcett, Katherine A. and Gjergja-Jura\v{s}ki, Romana and Pilz, Daniela T. and Fry, Andrew E.}, year = {2018}, pages = {786-793}, DOI = {10.1016/j.ajhg.2018.09.012}, keywords = {PCGF2, Polycomb Group Ring Finger 2, MEL18, intellectual disability, dysmorphism, polymicrogyria}, journal = {American journal of human genetics}, doi = {10.1016/j.ajhg.2018.09.012}, volume = {103}, number = {5}, issn = {0002-9297}, title = {Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features}, keyword = {PCGF2, Polycomb Group Ring Finger 2, MEL18, intellectual disability, dysmorphism, polymicrogyria} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE
  • Nature Index

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