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

A Taq I polymorphism, located in intron 4 of the faciogenital dysplasia ( FGD1 ) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accurate carrier detection of individuals at risk for Aarskog syndrome.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47642/1/439_2004_Article_BF00191816.pd

Mineral phase analysis of deep-sea hydrothermal particulates by a Raman spectroscopy expert algorithm : toward autonomous in situ experimentation and exploration

Author Posting. © American Geophysical Union, 2009. This article is posted here by permission of American Geophysical Union for personal use, not for redistribution. The definitive version was published in Geochemistry Geophysics Geosystems 10 (2009): Q05T05, doi:10.1029/2008GC002314.This paper demonstrates that a Raman spectroscopy, point-counting technique can be used for phase analysis of minerals commonly found in deep-sea hydrothermal plumes, even for minerals with similar chemical compositions. It also presents our robust autonomous identification algorithm and spectral database, both of which were developed specifically for deep-sea hydrothermal studies. The Raman spectroscopy expert algorithm was developed and tested against multicomponent mixtures of minerals relevant to the deep-sea hydrothermal environment. It is intended for autonomous classification where many spectra must be examined with little or no human involvement to increase analytic precision, accuracy, and data volume or to enable in situ measurements and experimentation.Support for J.A.B. was provided through a RIDGE 2000 Postdoctoral Fellowship (NSF OCE-0550331)

Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases

Background: Dbl, a guanine nucleotide exchange factor (GEF) for members of the Rho family of small GTPases, is the prototype of a family of 15 related proteins. The majority of proteins that contain a DH (Dbl homology) domain were isolated as oncogenes in transfection assays, but two members of the DH family, FGD1 (the product of the faciogenital dysplasia or Aarskog–Scott syndrome locus) and Vav, have been shown to be essential for normal embryonic development. Mutations to the FGD1 gene result in a human developmental disorder affecting specific skeletal structures, including elements of the face, cervical vertebrae and distal extremities. Homozygous Vav−/− knockout mice embryos are not viable past the blastocyst stage, indicating an essential role of Vav in embryonic implantation. Results: Here, we show that the microinjection of FGD1 and Vav into Swiss 3T3 fibroblasts induces the polymerization of actin and the assembly of clustered integrin complexes. FGD1 activates Cdc42, whereas Vav activates Rho, Rac and Cdc42. In addition, FGD1 and Vav stimulate the mitogen activated protein kinase cascade that leads to activation of the c-Jun kinase SAPK/JNK1. Conclusions: We conclude that FGD1 and Vav are regulators of the Rho GTPase family. Along with their target proteins Cdc42, Rac and Rho, FGD1 and Vav control essential signals required during embryonic development