Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects

Genomics
L SchaeferH Y Zoghbi

Abstract

Microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant, male-lethal disorder associated with chromosomal rearrangements that result in deletions of the distal short arm of the X chromosome. In an effort to isolate expressed sequences from the 500-kb MLS critical region in Xp22.3, exons were trapped from 14 overlapping cosmids. Using exon connection followed by cDNA library screening, we identified a 2.4-kb contig of cDNA library screening 170 kb of genomic sequence in the MLS deletion region. Northern analysis of this cDNA detected a prominent approximately 4.2-kb transcript and a less abundant approximately 6-kb transcript in all tissues examined, with additional transcripts in skeletal muscle. Sequence analysis revealed a coding region of 601 amino acids contained in 12 exons, with a splice variant isoform of 495 amino acids. The predicted protein sequence of the gene, named ARHGAP6, contains homology to the GTPase-activating (GAP) domain of the rhoGAP family of proteins, which has been implicated in the regulation of actin polymerization at the plasma membrane in several cellular processes. The possible role of the ARHGAP6 protein in the pathogenesis of MLS is discussed.

Associated Clinical Trials

Jun 13, 2008·Ignatia Van den Veyver

References

Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·F SangerA R Coulson
Jul 15, 1992·American Journal of Medical Genetics·K NaritomiK Hirayama
Dec 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·E C Uberbacher, R J Mural
May 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·A J BucklerD E Housman
Jun 1, 1990·The Journal of Pediatrics·J A NeidichJ M Puck
Oct 5, 1990·Journal of Molecular Biology·S F AltschulD J Lipman
Jul 25, 1990·Nucleic Acids Research·C J BrownH F Willard
Jan 11, 1984·Nucleic Acids Research·J DevereuxO Smithies
May 5, 1982·Journal of Molecular Biology·J Kyte, R F Doolittle
Dec 1, 1994·Trends in Genetics : TIG·N Lamarche, A Hall
Jan 1, 1994·Journal of Cell Science. Supplement·A J Ridley
Dec 1, 1994·Journal of Cellular Biochemistry·E Ingley, B A Hemmings
Jan 15, 1994·American Journal of Medical Genetics·E A LindsayH Y Zoghbi
Jul 1, 1993·Nature Genetics·L SchaeferA Ballabio

❮ Previous
Next ❯

Citations

Nov 29, 2008·Journal of Molecular and Cellular Cardiology·Franck PotetSabina Kupershmidt
Dec 3, 2015·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Junping LiYihua Yin
Aug 2, 2005·American Journal of Medical Genetics. Part a·Manuela MorleoBrunella Franco
Sep 18, 2009·American Journal of Medical Genetics. Part a·Xiaoling WangIgnatia B Van den Veyver
Apr 23, 2003·American Journal of Medical Genetics. Part a·A AnguianoJ J Hoo
Jan 16, 2007·Biology of the Cell·Joseph Tcherkezian, Nathalie Lamarche-Vane
Oct 18, 2008·American Journal of Medical Genetics. Part a·Bobbi HopkinsGary Clark
May 6, 2006·European Journal of Oral Sciences·Neal CramptonWilliam A Bonass
May 6, 2006·European Journal of Oral Sciences·Yong LiCarolyn W Gibson
Jul 13, 2004·Trends in Cell Biology·Andre Bernards, Jeffrey Settleman
Mar 23, 2005·Gene·Carolyn W GibsonJennifer Kirkham
Dec 22, 2004·The Journal of Biological Chemistry·Irena Lavelin, Benjamin Geiger
Jul 12, 2005·Calcified Tissue International·S K PrakashI B van den Veyver
Nov 30, 2016·Molecular Genetics & Genomic Medicine·Yuanyuan HuJames P Simmer
Feb 19, 2002·Laboratory Investigation; a Journal of Technical Methods and Pathology·Vasantha RaoSamuel Zigler
Jun 27, 2001·Journal of Medical Genetics·H KayseriliM Yüksel-Apak

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.