Effects of Retinoic Acid on the Development of the Facial Skeleton in Hamsters: Early Changes Involving Cranial Neural Crest Cells

Wiley, Michael J.; Cauwenbergs, P.; Taylor, Ian

doi:10.1159/000145741

Cited by 92 publications

(43 citation statements)

References 19 publications

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“…These early theories included abnormal patterns of neural crest cell migration, 18 abnormal domains of cell death, 19,20 improper cellular differentiation during development 21 or an abnormality of the extracellular matrix; 22 however, there was little experimental evidence to support any of these hypotheses. The integration of molecular biology, cell biology, mouse genetics and experimental embryology has recently provided novel insights into the molecular pathogenesis of TCS.…”

Section: Molecular and Genetic Basis Of The Diseasementioning

confidence: 99%

Treacher Collins syndrome: etiology, pathogenesis and prevention

2008

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In association withTreacher Collins syndrome: etiology, pathogenesis and prevention Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals diagnosed with TCS frequently undergo multiple reconstructive surgeries, which are rarely fully corrective. Identifying potential avenues for rescue and/or repair of TCS depends on a profound appreciation of the etiology and pathogenesis of the syndrome. Recent research using animal models has not only determined the cellular basis of TCS but also, more importantly, unveiled a successful avenue for therapeutic intervention and prevention of the craniofacial anomalies observed in TCS.

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Section: Molecular and Genetic Basis Of The Diseasementioning

confidence: 99%

Treacher Collins syndrome: etiology, pathogenesis and prevention

2008

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“…In experimental animals, a Treacher-Collins(mandibu1o-facial dysostosis) like pattern occurred rather than a DiGeorge-like phenotype. Teratogenic doses of isotretinoin and vitamin A produced craniofacial malformations that closely resembled mandibulofacial dysostosis secondary to neural crest abnormalities (Poswillo, 1975;Sulik et al, 1987;Wiley et al, 1983).…”

Section: Mammalsmentioning

confidence: 97%

“…The evidence for a pathogenesis of retinoid teratogenicity resulting from an effect on neural crest migration and cell death (Webster et al, 1986;Wiley et al, 1983) provides a bridge to the studies of effects of isotretinoin on homeobox expression (Cho and DeRobertis, 1990). In experimental animals, a Treacher-Collins(mandibu1o-facial dysostosis) like pattern occurred rather than a DiGeorge-like phenotype.…”

Section: Mammalsmentioning

confidence: 99%

Recent advances in developmental genetics: Growth factors and morphogens

Erickson

1995

Molecular Reproduction Devel

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“…The analysis of Tcof1 heterozygous mice demonstrated that the correct dosage of treacle is essential for survival of cephalic neural crest cells that contribute significantly to formation of branchial arches. Hence, dysmorphogenesis of the lower face may be a consequence of defective neural crest cell migration from the hindbrain to the branchial arches during early embryogenesis (61,62). If the functions of hNop56p and treacle in ribosome biogenesis are directly related to TCS, then a possible underlying mechanism is that a sufficient supply of ribosomes is essential for normal development.…”

Section: Figmentioning

confidence: 99%

Proteomic Analysis of Human Nop56p-associated Pre-ribosomal Ribonucleoprotein Complexes

Hayano

Yanagida

Yamauchi

et al. 2003

Journal of Biological Chemistry

121

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Nop56p is a component of the box C/D small nucleolar ribonucleoprotein complexes that direct 2-O-methylation of pre-rRNA during its maturation. Genetic analyses in yeast have shown that Nop56p plays important roles in the early steps of pre-rRNA processing. However, its precise function remains elusive, especially in higher eukaryotes. Here we describe the proteomic characterization of human Nop56p (hNop56p)-associated pre-ribosomal ribonucleoprotein complexes. Mass spectrometric analysis of purified pre-ribosomal ribonucleoprotein complexes identified 61 ribosomal proteins, 16 trans-acting factors probably involved in ribosome biogenesis, and 29 proteins whose function in ribosome biogenesis is unknown. Identification of prerRNA species within hNop56p-associated pre-ribosomal ribonucleoprotein complexes, coupled with the known functions of yeast orthologs of the probable trans-acting factors identified in human, demonstrated that hNop56p functions in the early to middle stages of 60 S subunit synthesis in human cells. Interestingly, the nucleolar phosphoprotein treacle, which is responsible for the craniofacial disorder associated with Treacher Collins syndrome, was found to be a constituent of hNop56p-associated pre-rRNP complexes. The association of hNop56p and treacle within the complexes was independent of rRNA integrity, indicating a direct interaction. In addition, the protein compositions of the treacle-associated and hNop56p-associated pre-ribosomal ribonucleoprotein complexes were very similar, suggesting functional similarities between these two complexes with respect to ribosome biogenesis in human cells.The ribosome constitutes one of the most fundamental molecular machines in living cells. Given that protein synthesis is essential for cell growth, proliferation, and adaptation, ribosome biogenesis is intimately coupled to the needs of the cell. Ribosome biogenesis is efficiently coordinated in the nucleolus, a subnuclear compartment in eukaryotic cells. Each mature ribosome in the cytoplasm consists of the large subunit (60 S) and the small subunit (40 S) that together comprise over 80 ribosomal proteins organized within and around mature rRNAs. In mammalian cells, the large subunit is composed of ϳ50 ribosomal proteins and three species of rRNA (28 S, 5.8 S, and 5 S), whereas the small subunit consists of ϳ30 ribosomal proteins and 18 S rRNA. During ribosome biogenesis, ribosomal DNA for 5.8 S, 18 S, and 28 S rRNAs is transcribed by RNA polymerase I into a large primary precursor (47 S) containing 5Ј-and 3Ј-external transcribed spacers (5Ј-ETS 1 and 3Ј-ETS) and two internal transcribed spacers (ITS1 and ITS2) (1, 2). Concomitant with the methylation and pseudouridylation of ribose moieties, the 47 S precursor is cleaved at specific sites to produce a series of characteristic intermediates that ultimately result in mature 5.8 S, 18 S, and 28 S rRNAs. Pre-5 S rRNA is transcribed by RNA polymerase III and processed independently of the other three rRNAs (3).During ribosome biogenesis, a multitude of ...

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Effects of Retinoic Acid on the Development of the Facial Skeleton in Hamsters: Early Changes Involving Cranial Neural Crest Cells

Cited by 92 publications

References 19 publications

Treacher Collins syndrome: etiology, pathogenesis and prevention

Treacher Collins syndrome: etiology, pathogenesis and prevention

Recent advances in developmental genetics: Growth factors and morphogens

Proteomic Analysis of Human Nop56p-associated Pre-ribosomal Ribonucleoprotein Complexes

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