A Transcription Map in the CATCH22 Critical Region: Identification, Mapping, and Ordering of Four Novel Transcripts Expressed in Heart

Lindsay, Elizabeth A.; Rizzu, Patrizia; Antonacci, Rachele; Jurecic, Vesna; Delmas-Mata, Juan T.; Lee, Cheng‐Chi; Kim, Ung Jin; Scambler, Peter J.; Baldini, Antonio

doi:10.1006/geno.1996.0082

Cited by 46 publications

(24 citation statements)

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“…First, clathrin immunoreactivity (detected by monoclonal antibody X22) is present in proximity of T tubules as previously reported (Kaufman et al, 1990) and further confirmed by this study. This clathrin heavy chain is likely to correspond to the skeletal muscle specific clathrin recently described by several groups (Gong et al, 1996;Kedra et al, 1996;Lindsay et al, 1996;Sirotkin et al, 1996). Second, the glut4 transporter, which undergoes regulated surface exposure in response to insulin (Wang et al, 1996) and is internalized at least in part via clathrin coated vesicles (Garippa et al, 1996;Robinson et al, 1996), is concentrated along the T system and surrounding vesicles (Slot et al, 1991;Munoz et al, 1995a,b).…”

Section: Discussionsupporting

confidence: 55%

Amphiphysin and Breast Cancer

DeCamilli¹

1998

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Section: Discussionsupporting

confidence: 55%

Amphiphysin and Breast Cancer

DeCamilli¹

1998

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“…Bis1 is homologous to the ES2 nuclear protein family (ProDomain Data base) for which no function has been identified. The Bis1 protein shows extensive homology with ES2 family members from C. elegans (42), Drosophila (43), H. sapiens (44,45), and A. thaliana (Proteome data base) (Fig. 5E).…”

Section: Isolation Of Ish1 Using the Gfp Insertional Mutagenesismentioning

confidence: 99%

The Fission Yeast ES2 Homologue, Bis1, Interacts with the Ish1 Stress-responsive Nuclear Envelope Protein

Taricani¹,

Tejada²,

Young

2002

Journal of Biological Chemistry

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In fission yeast, nutrient starvation induces physiological, biochemical, and morphological changes that enable survival. Collectively these changes are referred to as stationary phase. We have used a green fluorescent protein random insertional mutagenesis system to isolate two novel stress-response proteins required in stationary phase. Ish1 is a nuclear envelope protein that is present throughout the cell cycle and whose expression is increased in response to stresses such as glucose and nitrogen starvation, as well as osmotic stress. Expression of Ish1 is regulated by the Spc1 MAPK pathway through the Atf1 transcription factor. Although overexpression of Ish1 is lethal, cells lacking ish1 exhibit reduced viability in stationary phase. Bis1 is a novel interacting partner of Ish1. Bis1 is the Schizosaccharomyces pombe member of the ES2 nuclear protein family found in Mus musculus, Drosophila melanogaster, Homo sapiens, and Arabidopsis thaliana. Overexpression of Bis1 results in a cell elongation phenotype, whereas bis1 ؊ cells exhibit a reduced viability in stationary phase similar to that seen in ish1 ؊ cells.

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“…Despite the fact that numerous candidate genes have been identified, none has been shown to be directly involved in either DGS or VCFS (Halford et al 1993;Demczuk et al 1995Demczuk et al , 1996Heisterkamp et al 1995;Wadey et al 1995;Goldmuntz et al 1996;Kedra et al 1996;Lindsay et al 1996;Sirotkin et al 1996;Sutherland et al 1996). It has been suggested that a gene disrupted by a balanced translocation, t(2;22), from a patient designated as ADU, would be a particularly good candidate gene (Augusseau et al 1986).…”

mentioning

confidence: 99%

A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.

Galili¹,

Baldwin²,

Lund³

et al. 1997

Genome Res.

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DGS and VCFS, haploinsufficiencies characterized by multiple craniofaciai and cardiac abnormalities, are associated with a microdeletion of chromosome 22qU.2. Here we document synteny between a 150-kb region on mouse chromosome 16 and the most commonly deleted portion of 22q11.2. Seven genes, all of which are transcribed in the early mouse embryo, have been identified. Of particular interest are two serine/threonine kinase genes and a novel goosecoid-like homeobox gene (Gsc0. Comparative sequence analysis of a 38-kb segment reveals similarities in gene content, order, exon composition, and transcriptional direction. Therefore, if deletion of these genes results in DGS/VCFS in humans, then haploinsufficiencies involving this region of chromosome 16 should recapitulate the developmental field defects characteristic of this syndrome.

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A Transcription Map in the CATCH22 Critical Region: Identification, Mapping, and Ordering of Four Novel Transcripts Expressed in Heart

Cited by 46 publications

References 0 publications

Amphiphysin and Breast Cancer

Amphiphysin and Breast Cancer

The Fission Yeast ES2 Homologue, Bis1, Interacts with the Ish1 Stress-responsive Nuclear Envelope Protein

A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.

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