Isolation of Novel Heart-Specific Genes Using the BodyMap Database

Soejima, Hidenobu; Kawamoto, Shoko; Akai, Jun; Miyoshi, Osamu; Morohka, Toshifumi; Matsuo, Shuzo; Niikawa, Norio; Kimura, Akinori; Okubo, Kousaku; Mukai, Tsunehiro

doi:10.1006/geno.2001.6527

Cited by 20 publications

(18 citation statements)

References 15 publications

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“…6d . The nuclear protein ADSSL1 has limited data suggesting contribution to glycolysis, while vague literature on HHATL mentions heart specificity [ 32 ], however, the exact function is unknown and neither ADSSL1 nor HHATL has previously been characterized on the protein level. Another protein only characterized on the transcript level is C1ORF170, which regulates the expression of target genes associated with energy transfer and contractile function [ 33 ].…”

Section: Resultsmentioning

confidence: 99%

The human cardiac and skeletal muscle proteomes defined by transcriptomics and antibody-based profiling

et al. 2015

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BackgroundTo understand cardiac and skeletal muscle function, it is important to define and explore their molecular constituents and also to identify similarities and differences in the gene expression in these two different striated muscle tissues. Here, we have investigated the genes and proteins with elevated expression in cardiac and skeletal muscle in relation to all other major human tissues and organs using a global transcriptomics analysis complemented with antibody-based profiling to localize the corresponding proteins on a single cell level.ResultsOur study identified a comprehensive list of genes expressed in cardiac and skeletal muscle. The genes with elevated expression were further stratified according to their global expression pattern across the human body as well as their precise localization in the muscle tissues. The functions of the proteins encoded by the elevated genes are well in line with the physiological functions of cardiac and skeletal muscle, such as contraction, ion transport, regulation of membrane potential and actomyosin structure organization. A large fraction of the transcripts in both cardiac and skeletal muscle correspond to mitochondrial proteins involved in energy metabolism, which demonstrates the extreme specialization of these muscle tissues to provide energy for contraction.ConclusionsOur results provide a comprehensive list of genes and proteins elevated in striated muscles. A number of proteins not previously characterized in cardiac and skeletal muscle were identified and localized to specific cellular subcompartments. These proteins represent an interesting starting point for further functional analysis of their role in muscle biology and disease.Electronic supplementary materialThe online version of this article (doi:10.1186/s12864-015-1686-y) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

The human cardiac and skeletal muscle proteomes defined by transcriptomics and antibody-based profiling

et al. 2015

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“…All of these different molecular masses most likely represent isoforms of hINADl because we discovered in the cDNA data libraries at least six isoforms either with alternative splicing or with different initiation sites for translation (not shown). To support this hypothesis some of these transcripts are tissue-specific (27), and we detected at least three transcripts in Caco-2 cells by Northern blotting and many alternative spliced forms by RT-PCR (not shown). We cannot exclude, however, that some of the bands are natural or experimental degradation products.…”

Section: Characterization Of Hinadl In Epithelialmentioning

confidence: 85%

hINADl/PATJ, a Homolog of Discs Lost, Interacts with Crumbs and Localizes to Tight Junctions in Human Epithelial Cells

Lemmers

Médina

Delgrossi

et al. 2002

Journal of Biological Chemistry

152

130

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dCrumbs is an apical organizer crucial for the maintenance of epithelial polarity in Drosophila (1). It is known that dCrumbs interacts with Discs lost (Dlt), a protein with four PDZ (PSD95/Discs Large/ZO-1) domains (2), and Stardust (Sdt), a protein of the MAGUK (membrane-associated guanylate kinase) family (3, 4). We have searched for potential homologs of Dlt in human epithelial cells and characterized one of them in intestinal epithelial cells. Human INAD-like (hINADl) contains 8 PDZ domains, is concentrated in tight junctions, and is also found at the apical plasma membrane. Overexpression of hINADl disrupted the tight junctions localization of ZO-1 and 3. We also identified a partial cDNA coding the transmembrane and cytoplasmic domains of a new human crumbs (CRB3) expressed in Caco-2 cells. This CRB3 was able to interact through its C-terminal end with the N-terminal domain of hINADl. Taken together, the data indicate that hINADl is likely to represent a Dlt homolog in mammalian epithelial cells and might be involved in regulating the integrity of tight junctions. We thus propose to rename hINADl PATJ for protein associated to tight junctions.

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“…The plasma membrane localisation of Gup1 is dependent on the secretory pathway proteins Sec6-4 [ 41 ] and End-3-mediated excision [ 26 , 41 ]. In opposition, in mammalian cells (mouse myocytes cell line), the Gup1 orthologue localises predominantly in the cytosol and only residually in the ER closer to the nucleus [ 34 ].…”

Section: Yeast Gup1 and Gup2 Proteinsmentioning

confidence: 99%

“…In human tissues, the HHAT(L) picture appears somewhat more complex than predicted [ 22 ]. The HHATL gene is expressed in very few tissues and in different amounts: heart > skeletal muscle > brain [ 34 , 35 , 223 ]. Actually, the gene maps to a locus of dilated cardiomyopathy (CMD1E/OMIM 601154), a disorder characterised by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia, eventually causing premature death that also harbours another gene encoding a cardiac muscle Na + channel (SCN5A/HH1).…”

Section: Gup1/2 Homologues From High Eukaryotesmentioning

confidence: 99%

Yeast Gup1(2) Proteins Are Homologues of the Hedgehog Morphogens Acyltransferases HHAT(L): Facts and Implications

Lucas

Ferreira

Cazzanelli

et al. 2016

JDB

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In multiple tissues, the Hedgehog secreted morphogen activates in the receiving cells a pathway involved in cell fate, proliferation and differentiation in the receiving cells. This pathway is particularly important during embryogenesis. The protein HHAT (Hedgehog O-acyltransferase) modifies Hh morphogens prior to their secretion, while HHATL (Hh O-acyltransferase-like) negatively regulates the pathway. HHAT and HHATL are homologous to Saccharomyces cerevisiae Gup2 and Gup1, respectively. In yeast, Gup1 is associated with a high number and diversity of biological functions, namely polarity establishment, secretory/endocytic pathway functionality, vacuole morphology and wall and membrane composition, structure and maintenance. Phenotypes underlying death, morphogenesis and differentiation are also included. Paracrine signalling, like the one promoted by the Hh pathway, has not been shown to occur in microbial communities, despite the fact that large aggregates of cells like biofilms or colonies behave as proto-tissues. Instead, these have been suggested to sense the population density through the secretion of quorum-sensing chemicals. This review focuses on Gup1/HHATL and Gup2/HHAT proteins. We review the functions and physiology associated with these proteins in yeasts and higher eukaryotes. We suggest standardisation of the presently chaotic Gup-related nomenclature, which includes KIAA117, c3orf3, RASP, Skinny, Sightless and Central Missing, in order to avoid the disclosure of otherwise unnoticed information.

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Isolation of Novel Heart-Specific Genes Using the BodyMap Database

Cited by 20 publications

References 15 publications

The human cardiac and skeletal muscle proteomes defined by transcriptomics and antibody-based profiling

The human cardiac and skeletal muscle proteomes defined by transcriptomics and antibody-based profiling

hINADl/PATJ, a Homolog of Discs Lost, Interacts with Crumbs and Localizes to Tight Junctions in Human Epithelial Cells

Yeast Gup1(2) Proteins Are Homologues of the Hedgehog Morphogens Acyltransferases HHAT(L): Facts and Implications

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