cDNA cloning of a new member of the Ras superfamily, RAB9-like, on the human chromosome Xq22.1–q22.3 region

Seki, Naohiko; Abe, Takanori; Yoshikawa, Tsutomu; Masuho, Yasuhiko; Muramatsu, Masaaki

doi:10.1007/s100380070025

Cited by 10 publications

(5 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…We also found an interaction of HPS4 with the Q66L mutant of Rab9b (Fig. 4B), a second Rab9 isoform in humans that shares 76% sequence identity with Rab9a (35). We confirmed the interaction with Rab9a in vitro using pulldown assays.…”

Section: Assembly Of Bloc-3 Depends On Multiple Sites Of Interaction supporting

confidence: 69%

Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9

Kloer¹,

Rojas

Ivan

et al. 2010

Journal of Biological Chemistry

View full text Add to dashboard Cite

The Hermansky-Pudlak syndrome (HPS) is a genetic hypopigmentation and bleeding disorder caused by defective biogenesis of lysosome-related organelles (LROs) such as melanosomes and platelet dense bodies. HPS arises from mutations in any of 8 genes in humans and 16 genes in mice. Two of these genes, HPS1 and HPS4, encode components of the biogenesis of lysosome-related organelles complex-3 (BLOC-3). Herein we show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer. Analytical ultracentrifugation reveals that this complex has a molecular mass of 146 kDa, equivalent to that of the native complex and to the sum of the predicted molecular masses of HPS1 and HPS4. This indicates that HPS1 and HPS4 interact directly in the absence of any other protein as part of BLOC-3. Limited proteolysis and deletion analyses show that both subunits interact with one another throughout most of their lengths with the sole exception of a long, unstructured loop in the central part of HPS4. An interaction screen reveals a specific and strong interaction of BLOC-3 with the GTP-bound form of the endosomal GTPase, Rab9. This interaction is mediated by HPS4 and the switch I and II regions of Rab9. These characteristics indicate that BLOC-3 might function as a Rab9 effector in the biogenesis of LROs.

show abstract

Section: Assembly Of Bloc-3 Depends On Multiple Sites Of Interaction supporting

confidence: 69%

Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9

Kloer¹,

Rojas

Ivan

et al. 2010

Journal of Biological Chemistry

View full text Add to dashboard Cite

show abstract

“…Molecular studies have reported a significant association between PCDH11X SNPs and late-onset ([65 years) Alzheimer's disease (LOAD) (Carrasquillo et al 2009;Lambert et al 2009). RAB9B has similarly been associated with the Chediak-Higashi syndrome (Davies et al 1997;Seki et al 2000). A total of 100 microinversions were detected in the present work in the mammalian X chromosome (241.4 Kb average size).…”

Section: Chromosomal Rearrangements In Mammalssupporting

confidence: 59%

A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics

Quiroga

Laissue

2014

Mamm Genome

View full text Add to dashboard Cite

Chromosomal evolution involves multiple changes at structural and numerical levels. These changes, which are related to the variation of the gene number and their location, can be tracked by the identification of syntenic blocks (SB). First reports proposed that ~180-280 SB might be shared by mouse and human species. More recently, further studies including additional genomes have identified up to ~1,400 SB during the evolution of eutherian species. A considerable number of studies regarding the X chromosome's structure and evolution have been undertaken because of its extraordinary biological impact on reproductive fitness and speciation. Some have identified evolutionary breakpoint regions and fragile sites at specific locations in the human X chromosome. However, mapping these regions to date has involved using low-to-moderate resolution techniques. Such scenario might be related to underestimating their total number and giving an inaccurate location. The present study included using a combination of bioinformatics methods for identifying, at base-pair level, chromosomal rearrangements occurring during X chromosome evolution in 13 mammalian species. A comparative technique using four different algorithms was used for optimizing the detection of hotspot regions in the human X chromosome. We identified a significant interspecific variation in SB size which was related to genetic information gain regarding the human X chromosome. We found that human hotspot regions were enriched by LINE-1 and Alu transposable elements, which may have led to intraspecific chromosome rearrangement events. New fragile regions located in the human X chromosome have also been postulated. We estimate that the high resolution map of X chromosome fragile sites presented here constitutes useful data concerning future studies on mammalian evolution and human disease.

show abstract

“…It has also been found that Rab9 GTPases are a key component for the replication of several viruses, including HIV1, Ebola, Marburg, and measles making Rab9 a potential target for inhibiting replication of some viruses [ 52 , 53 ]. A second human isoform of Rab9, named Rab9b was reported [ 54 ] and additionally a human Rab9 pseudogene was identified [ 55 ].…”

Section: Introductionmentioning

confidence: 99%

Phylogeny and evolution of Rab7 and Rab9 proteins

Mackiewicz

Wyroba

2009

BMC Evol Biol

View full text Add to dashboard Cite

Background: An important role in the evolution of intracellular trafficking machinery in eukaryotes played small GTPases belonging to the Rab family known as pivotal regulators of vesicle docking, fusion and transport. The Rab family is very diversified and divided into several specialized subfamilies. We focused on the VII functional group comprising Rab7 and Rab9, two related subfamilies, and analysed 210 sequences of these proteins. Rab7 regulates traffic from early to late endosomes and from late endosome to vacuole/lysosome, whereas Rab9 participates in transport from late endosomes to the trans-Golgi network.

show abstract

cDNA cloning of a new member of the Ras superfamily, RAB9-like, on the human chromosome Xq22.1–q22.3 region

Cited by 10 publications

References 20 publications

Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9

Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9

A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics

Phylogeny and evolution of Rab7 and Rab9 proteins

Contact Info

Product

Resources

About