An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome

Pasteris, N. German; Gorski, Jerome L.

doi:10.1007/bf00191816

Cited by 6 publications

(2 citation statements)

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“…One example is FGD1, a GEF of Cdc42 shown originally to be localized to patches underlying the plasma membrane as well as at the Golgi [ 28 ]. Mutations in the FGD1 gene are linked to the rare disease faciogenital dysplasia, and it was this observation that first drew attention to its possible role in the cell [ 55 ]. It was subsequently shown that the FGD1 protein localizes to the TGN and that its depletion results in reduced transport of VSV-G cargo between the TGN and cell surface.…”

Section: Regulation Of Golgi-associated Membrane Trafficking Events By Rho Proteinsmentioning

confidence: 99%

Emerging roles for Rho GTPases operating at the Golgi complex

Mysior

Simpson

2020

Small GTPases

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Rho GTPases are known to play an essential role in fundamental processes such as defining cell shape, polarity and migration. As such, the majority of Rho GTPases localize and function at, or close to, the plasma membrane. However, it is becoming increasingly clear that a number of Rho family proteins are also associated with the Golgi complex, where they not only regulate events at this organelle but also more widely across the cell. Given the central location of this organelle, and the numerous membrane trafficking pathways that connect it to both the endocytic and secretory systems of cells, it is clear that the Golgi is fundamental for maintaining cellular homoeostasis. In this review, we describe these GTPases in the context of how they regulate Golgi architecture, membrane trafficking into and away from this organelle, and cell polarity and migration. We summarize the key findings that show the growing importance of the pool of Rho GTPases associated with Golgi function, namely Cdc42, RhoA, RhoD, RhoBTB1 and RhoBTB3, and we discuss how they act in concert with other key families of molecules associated with the Golgi, including Rab GTPases and matrix proteins.

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Section: Regulation Of Golgi-associated Membrane Trafficking Events By Rho Proteinsmentioning

confidence: 99%

Emerging roles for Rho GTPases operating at the Golgi complex

Mysior

Simpson

2020

Small GTPases

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“…An intragenic Taq I restriction site FGD1 polymorphism [Pasteris and Gorski, 1995] and four microsatellite markers anking the FGD1 gene were investigated in this family (Fig. 3).…”

Section: Molecular Studymentioning

confidence: 99%

Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: Exclusion of the Aarskog (FGD1) gene as a candidate gene

et al. 2001

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A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother. The boy has not yet experienced dislocation of patella or other joint anomaly except for limitation of supination of the forearms. On the other hand, the mother has a milder limitation of supination only on the left arm and is devoid of ptosis. Their condition is reminiscent of that described in the family reported by Kapur et al. [1989: Am. J. Med. Genet. 33: 357-363.], which showed an X-linked dominant mode of inheritance. DNA study on our family using an intragenic polymorphism of the Aarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutation of the FGD1 gene. Our family and the family reported by Kapur et al. may suggest segregation of a novel X-linked dominant condition.

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Faciogenital (Faciodigitogenital) Dysplasia

2012

Atlas of Genetic Diagnosis and Counseling

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An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome

Cited by 6 publications

References 1 publication

Emerging roles for Rho GTPases operating at the Golgi complex

Emerging roles for Rho GTPases operating at the Golgi complex

Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: Exclusion of the Aarskog (FGD1) gene as a candidate gene

Faciogenital (Faciodigitogenital) Dysplasia

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