Regional mapping of a human rod α -transducin (GNAT1) gene to chromosome 3p22

Jt, Ngo; Jb, Bateman; Klisak, I; Mohandas, T.; C, Van Dop; Rs, Sparkes

doi:10.1016/s0888-7543(05)80384-2

Cited by 6 publications

(3 citation statements)

References 12 publications

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“…This gene encodes a G-protein responsible for coupling rhodopsin and cGMP-phosphodiesterase during visual system impulse propagation in rod cells [47], [48]. Strickler and Jeffery (2009) similarly demonstrated a strong reduction of gnat1 expression in cavefish compared to surface fish using a cross-species Danio microarray approach [49].…”

Section: Resultsmentioning

confidence: 99%

An Integrated Transcriptome-Wide Analysis of Cave and Surface Dwelling Astyanax mexicanus

et al. 2013

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Numerous organisms around the globe have successfully adapted to subterranean environments. A powerful system in which to study cave adaptation is the freshwater characin fish, Astyanax mexicanus. Prior studies in this system have established a genetic basis for the evolution of numerous regressive traits, most notably vision and pigmentation reduction. However, identification of the precise genetic alterations that underlie these morphological changes has been delayed by limited genetic and genomic resources. To address this, we performed a transcriptome analysis of cave and surface dwelling Astyanax morphs using Roche/454 pyrosequencing technology. Through this approach, we obtained 576,197 Pachón cavefish-specific reads and 438,978 surface fish-specific reads. Using this dataset, we assembled transcriptomes of cave and surface fish separately, as well as an integrated transcriptome that combined 1,499,568 reads from both morphotypes. The integrated assembly was the most successful approach, yielding 22,596 high quality contiguous sequences comprising a total transcriptome length of 21,363,556 bp. Sequence identities were obtained through exhaustive blast searches, revealing an adult transcriptome represented by highly diverse Gene Ontology (GO) terms. Our dataset facilitated rapid identification of sequence polymorphisms between morphotypes. These data, along with positional information collected from the Danio rerio genome, revealed several syntenic regions between Astyanax and Danio. We demonstrated the utility of this positional information through a QTL analysis of albinism in a surface x Pachón cave F2 pedigree, using 65 polymorphic markers identified from our integrated assembly. We also adapted our dataset for an RNA-seq study, revealing many genes responsible for visual system maintenance in surface fish, whose expression was not detected in adult Pachón cavefish. Conversely, several metabolism-related genes expressed in cavefish were not detected in surface fish. This resource will enable powerful genetic and genomic analyses in the future that will better clarify the heritable genetic changes governing adaptation to the cave environment.

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Section: Resultsmentioning

confidence: 99%

An Integrated Transcriptome-Wide Analysis of Cave and Surface Dwelling Astyanax mexicanus

et al. 2013

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Section: Discussionmentioning

confidence: 99%

“…Guanine nucleotide-binding protein G (G protein) subunit α-1a encoded by GNAT1 is an intracellular protein involved in light signal transduction in the retina (40). G protein, as an energy regulator, participates in the regulation of different transmembrane signal transduction pathways (40). Yi et al (41) found that expression of GNAT1 was downregulated in 72.7% (24/33) of nasopharyngeal carcinoma tissues, which was markedly lower than that in chronic nasopharyngitis tissues (100%, 15/15).…”

Section: Discussionmentioning

confidence: 99%

Screening of candidate tumor-suppressor genes in 3p21.3 and investigation of the methylation of gene promoters in oral squamous cell carcinoma

Wang

Ling

et al. 2012

Oncology Reports

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Oral squamous cell carcinoma (OSCC) is the most common type of head and neck malignant tumor. however, its pathological mechanisms have not yet been elucidated. In the present study, we screened for candidate tumor-suppressor genes (TSGs) related to OSCC among 10 candidate genes located in 3p21.3, a region abundant with TSGs based on previous studies, using semi-quantitative reverse transcription PCR (RT-PCR). Three genes, GNAT1, SEMA3B and AXUD1, with low or no expression in OSCC tissues and the cell line TCA8113 were selected, and the promoter methylation status was further analyzed by methylation-specific PCR (MS-PCR). Hypermethylation in the promoter regions of SEMA3B was found in OSCC tissues, and a significant difference in the frequency of methylation of SEMA3B was observed between OSCC and non-cancerous tissues. Furthermore, TCA8113 cells treated with 5-Aza-Cdc started to re-express SEMA3B at a concentration of 5 µM or higher. Our study confirmed that three candidate TSGs with low expression may be involved in OSCC and that hypermethylation in promoter regions may contribute to the low expression of SEMA3B. These findings offer novel insights for clarifying the molecular mechanisms of tumorigenesis of OSCC as well as for aiding in its clinical diagnosis and therapeutic strategy.

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Progressive Cone and Cone-Rod Dystrophies: Phenotypes and Underlying Molecular Genetic Basis

Michaelides¹,

Hardcastle²,

Hunt³

et al. 2006

Survey of Ophthalmology

198

151

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Regional mapping of a human rod α -transducin (GNAT1) gene to chromosome 3p22

Cited by 6 publications

References 12 publications

An Integrated Transcriptome-Wide Analysis of Cave and Surface Dwelling Astyanax mexicanus

An Integrated Transcriptome-Wide Analysis of Cave and Surface Dwelling Astyanax mexicanus

Screening of candidate tumor-suppressor genes in 3p21.3 and investigation of the methylation of gene promoters in oral squamous cell carcinoma

Progressive Cone and Cone-Rod Dystrophies: Phenotypes and Underlying Molecular Genetic Basis

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