Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

Sirotkin, Howard I.; Morrow, Bernice E.; DasGupta, Ruchira; Goldberg, Rosalie; Patanjali, Sankhavaram R.; Shi, Guangping; Cannizzaro, Linda A.; Shprintzen, Robert J.; Weissman, Sherman M.; Kucherlapati, Raju

doi:10.1093/hmg/5.5.617

Cited by 56 publications

(33 citation statements)

References 41 publications

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“…An interesting cluster is observed around the muscle-specific clathrin heavy polypeptide like 1 (CLH22; Sirotkin et al, 1996;Doray and Kornfeld, 2001) consisting of the AP1␥1 subunit, GGA1 (Doray et al, 2002), the transcription factor regulating Arf1 levels, APA1/ ZFP410 (Benanti et al, 2002), and the adaptor-like protein Stonin-1 (Martina et al, 2001), suggesting a cargo-specific activity associated with CLH22 function. Other GGAs Figure 5.…”

Section: Coat Machineriesmentioning

confidence: 99%

Large-Scale Profiling of Rab GTPase Trafficking Networks: The Membrome

Gürkan

Lapp

Alory

et al. 2005

MBoC

114

107

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Rab GTPases and SNARE fusion proteins direct cargo trafficking through the exocytic and endocytic pathways of eukaryotic cells. We have used steady state mRNA expression profiling and computational hierarchical clustering methods to generate a global overview of the distribution of Rabs, SNAREs, and coat machinery components, as well as their respective adaptors, effectors, and regulators in 79 human and 61 mouse nonredundant tissues. We now show that this systems biology approach can be used to define building blocks for membrane trafficking based on Rab-centric protein activity hubs. These Rab-regulated hubs provide a framework for an integrated coding system, the membrome network, which regulates the dynamics of the specialized membrane architecture of differentiated cells. The distribution of Rab-regulated hubs illustrates a number of facets that guides the overall organization of subcellular compartments of cells and tissues through the activity of dynamic protein interaction networks. An interactive website for exploring datasets comprising components of the Rab-regulated hubs that define the membrome of different cell and organ systems in both human and mouse is available at http://www.membrome.org/. INTRODUCTIONUnderstanding the molecular basis for the organization of the exocytic and endocytic membrane trafficking pathways in the eukaryotic cell remains a formidable challenge. The foundation of these pathways is the lipid bilayer that separates different subcellular compartments, their distinguishing features encoded by phospholipid composition, and unique sets of integral and peripheral membrane proteins. By harnessing and regulating the fundamental processes of membrane fission and fusion through the action of protein complexes, the lipid bilayer can be exploited to produce a variety of distinct subcellular compartments with unique chemical environments that play essential roles in cell and organ function. Moreover, it is now evident that these subcellular compartments are dynamic structures in continuous and specific communication through carrier vesicles and tubules that mobilize cargo to specific destinations. They can be disassembled and reassembled in a remarkably facile manner in response to cell signaling pathways, mitosis, or by simple chemical perturbants.Implicit in these dynamic pathways is the need to systematically and reversibly regulate protein interactions. Although traditional phylogenetic analyses provided significant insights into the diversity of components that direct membrane traffic (Pereira-Leal and Seabra, 2000;Chen and Scheller, 2001;Pereira-Leal and Seabra, 2001), our understanding of the basic cellular building blocks that organize this diversity into contiguous pathways is still fragmentary. Reductionist approaches using biochemical and molecular tools also provide important insights into specific steps of a pathway. However, understanding the global interconnectivities of complex biological pathways, such as cargo trafficking, will require new approaches utilizing modern ...

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Section: Coat Machineriesmentioning

confidence: 99%

Large-Scale Profiling of Rab GTPase Trafficking Networks: The Membrome

Gürkan

Lapp

Alory

et al. 2005

MBoC

114

107

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“…There is preliminary evidence for the role of the low activity form of this gene in violent behavior (Lachman et al 1998). Other genes of interest in the deletion region include: TUPLE1, a transcription factor (Halford et al 1993); DGCR2, an adhesion receptor protein (Budarf et al 1995;, CLTD, a clathrin heavy chain gene (Sirotkin et al 1996); TMVCF, a transmembrane protein , and a developmentally expressed ubiquitination gene (Pizzuti et al 1997). Some of these have been found by screening fetal brain cDNA libraries.…”

Section: Candidate Genesmentioning

confidence: 99%

“…There is no apparent correlation between the severity or pattern of the expressed phenotype and the extent of the deletion for 22qDS (Carlson et al 1997). The factors responsible for the phenotypic diversity are unknown, but are likely to involve variability in the many genes expressed on the normal 22q11.2 chromosomal segment (Demczuk and Aurias 1995;Sirotkin et al 1996). Interacting or additive environmental factors such as teratogens, somatic mosaicism (e.g., deletions in some cells and not others) (Pinto-Escalante et al 1998) or stochastic (chance) effects could also play a role in clinical heterogeneity.…”

Section: Clinical Heterogeneitymentioning

confidence: 99%

22q11 deletion syndrome: a genetic subtype of schizophrenia

Bassett

Chow

1999

Biological Psychiatry

296

229

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Schizophrenia is likely to be caused by several susceptibility genes and may have environmental factors that interact with susceptibility genes and/or nongenetic causes. Recent evidence supports the likelihood that 22q11 Deletion Syndrome (22qDS) represents an identifiable genetic subtype of schizophrenia. 22qDS is an under-recognized genetic syndrome associated with microdeletions on chromosome 22 and a variable expression that often includes mild congenital dysmorphic features, hypernasal speech, and learning difficulties. Initial evidence indicates that a minority of patients with schizophrenia (~2%) may have 22qDS and that prevalence may be somewhat higher in subpopulations with developmental delay. This paper proposes clinical criteria (including facial features, learning disabilities, hypernasal speech, congenital heart defects and other congenital anomalies) to aid in identifying patients with schizophrenia who may have this subtype and outlines features that may increase the index of suspicion for this syndrome. Although no specific causal gene or genes have yet been identified in the deletion region, 22qDS may represent a more homogeneous subtype of schizophrenia. This subtype may serve as a model for neurodevelopmental origins of schizophrenia that could aid in delineating etiologic and pathogenetic mechanisms.

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“…The proportion of background sequences was low (3.4%), with the majority of clones being known genes. All five known positive control genes, IDD, ES2, CTP (Goldmuntz et al 1996), HIRA, and CLTD (Sirotkin et al 1996) were present in the cDNA select subclones as determined by colony hybridization and by specific EST sequence (data not shown). Two novel serine/threonine kinase genes, TSK and TSKP were also detected: Subsequently, TSK was also cloned by cDNA selection (Gong et al 1996) and TSKP was predicted by comparative sequence analysis of human 22q11 and MMU16 (Goldmuntz et al 1997).…”

Section: Resultsmentioning

confidence: 85%

Direct Selection of Conserved cDNAs from the DiGeorge Critical Region: Isolation of a Novel CDC45-Like Gene

McKie¹,

Wadey²,

Sutherland³

et al. 1998

Genome Res.

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We have used a modified direct selection technique to detect transcripts that are both evolutionary conserved and developmentally expressed. The enrichment for homologous mouse cDNAs by use of human genomic DNA as template is shown to be an efficient and rapid approach for generating transcript maps. Deletions of human 22q11 are associated with several clinical syndromes, with overlapping phenotypes, for example, velocardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS). A large number of transcriptional units exist within the defined critical region, many of which have been identified previously by direct selection. However, no single obvious candidate gene for the VCFS/DGS phenotype has yet been found. Our technique has been applied to the DiGeorge critical region and has resulted in the isolation of a novel candidate gene, Cdc45l2, similar to yeast Cdc45p.[The sequence data described in this paper have been submitted to the EMBL data library under accession nos. AJ0223728 and AF0223729.]

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Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

Cited by 56 publications

References 41 publications

Large-Scale Profiling of Rab GTPase Trafficking Networks: The Membrome

Large-Scale Profiling of Rab GTPase Trafficking Networks: The Membrome

22q11 deletion syndrome: a genetic subtype of schizophrenia

Direct Selection of Conserved cDNAs from the DiGeorge Critical Region: Isolation of a Novel CDC45-Like Gene

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