Testis-specific gene antigen 10 (TSGA10) encodes an 82-kDa protein expressed during development, and in testis and brain tissues. We report its expression in human monocyte-derived dendritic cells (DC) and macrophages in vitro and in murine spleen CD11c(+) cells ex vivo. An interaction between DC/macrophage-derived TSGA10 and vimentin, as well as a few other major cytoskeletal proteins (e.g., actin-γ1), was identified by pull-down and mass spectroscopy assays. The interaction between TSGA10 and vimentin was further confirmed by immunoprecipitation and immunolocalisation in transfected RAW267 and HEK293 cell lines. TSGA10 formed filamentous structures in transfected COS-1 cells and was observed in cellular projections. We propose that TSGA10 could influence the function of antigen presenting cells (APC) via its interaction with cytoskeletal proteins such as vimentin.

Impaired phonological encoding has been assumed to be one reason for reading problems in dyslexics. While normal readers are supposed to use a fast and efficient way of grapheme to phoneme conversion, dyslexics seem to be unable to access this pathway. The present study infers whether normal readers reading words written in a new script can utilise the efficient grapheme to phoneme conversion even if the new script had been acquired only recently. Furthermore, it was sudied whether normal readers reveal similar pattern of brain activation like dyslexics when reading the new script. To this aim magnetic brain activity was studied in a group of normal readers and dyslexics while reading words either written in Latin or the new script. Differences in activation where found at a latency of 250 ms conferming previous findings of a delayed processing in dyslexics. In addition brain activation at a latency of 350 to 500 ms showed close similarities between dyslexics and normal readers. Results indicate that there is a general difference between dyslexics and controls that is even evident while reading a new script. Difficulties in reading an unfamiliar script appeared to be related to later steps of the word reading process.

In this study TSGA10 has been demonstrated as a testis-specific human gene that encodes a protein localized in sperm-tail and conserved in ciliary structure. Further investigations showed TSGA10 signalling and expression during embryogenesis, brain development and some malignancies including brain tumors. Given the role of this protein in neuronal development and in certain tumors, it could potentially serve as a diagnostic marker and therapeutic target in brain tumors. Therefore, using immunohistochemistry, we evaluated the localization of TSGA10 in different regions of brain, and its pattern/level of expression in tissue microarray (Cybrdi) containing human brain tumors and normal brain. In rat specimens, TSGA10 was mainly expressed in subventricular zone, hippocampus and granular layer of cerebellum of the brain. The antibody also stained the diverse and different types of human brain cancers. The TSGA10 was strongly over-expressed in glioblastoma and astrocytoma when compared to normal human brain. The expression of TSGA10 was also confirmed in astrocyte derived from a human astroctyoma cell line by immunocytochemistry. This study indicates that TSGA10 can be used as an immunohistochemical marker for human neuroglia and astrocyte cells and is over-expressed in brain tumors.

Tsga10 has been localised in sperm tail as a fibrous sheath protein. In this study, we showed its expression during developmental stages of mouse embryo, in adult mice brain, and in some malignancies. RT-PCR and immunohistochemistry study show that Tsga10 expression starts in 4.5-7.5 dpc mouse embryos and continues throughout embryogenesis. Then we showed that the Tsga10 is expressed in adult brain and in the cells with neural crest origin, olfactory epithelium, and human germ cell tumour. It is expressed with two transcripts in sperm and whole embryos but just with the long transcript in brain embryo as a result of its exon 16 splicing. Our finding of the Tsga10 perinuclear localisation and its expression pattern suggests that it may be involved in active cell division, differentiation, and migrating cells. The results of the experiments in this project hypothesize the presence of Tsga10 protein wherever there is a conserved ciliary structure.

The hypoxia‐inducible factor (HIF)‐1 is a transcriptional regulator of genes involved in oxygen homeostasis. We previously described testis‐specific isoforms of HIF‐1α (mHIF‐1αI.1 and hHIF‐1αTe). Using mHIF‐1α exon I.1 knock‐out mice we confirmed the specific expression of mHIF‐1αI.1 in the sperm tail. A protein–protein interaction between HIF‐1α and the testis specific gene antigen 10 (TSGA10) was identified by yeast two‐hybrid screening. TSGA10 is expressed in testis but also in other organs and malignant tissues. Immunofluorescence analysis indicated that the C‐terminal part of TSGA10 accumulates in the midpiece of spermatozoa, where it co‐localizes with HIF‐1α. HIF‐1α nuclear localization and HIF‐1 transcriptional activity were significantly affected by overexpressed TSGA10.

In many inherited diseases, the same phenotype can be produced both by single-base changes and by large deletions, or in some cases by duplications. Routine high-throughput sequencing can now detect small mutations relatively easily in a diagnostic setting, but deletions and duplications in the 50-500 kb region remain a more difficult problem. We have explored the application of array-CGH to the detection of such changes on a set of 20 samples consisting of patients with eye diseases associated with changes on chromosome 6p25 together with unaffected individuals, as well as two samples from tuberous sclerosis 2 (TSC2) affected patients. We developed a microarray consisting of degenerate oligonucleotide primer (DOP)-PCR products from 260 human genomic clones, including BACs, PACs, and cosmids. In a masked study, chromosome changes in patients with iris hypoplasia (duplication) and Axenfeld-Rieger syndrome (deletion) were unequivocally distinguished from controls. Of the 20 6p25 samples analyzed, 19 were analyzed correctly (10 duplication cases, two deletions, and seven normals), while one individual failed to give a result because of poor hybridization. The extent of the duplication or deletion estimated was similar to that obtained by independent and much more time-consuming FISH experiments. On the other hand, deletions in the two TSC2-affected samples, previously mapped by DNA molecular combing, were not detected on the array, possibly due to the repeat content of that region. Excluding the l6p13 cosmids, consistent results were obtained from all other cosmid clones; the potential for producing affordable disease- specific diagnostic microarray as an adjunct to diagnosis is discussed. (C) 2004 Wiley,Liss, Inc.

We had previously reported the isolation of the testis-specific human gene Tsga10, which is not expressed in testes from two infertile patients. To study its role and function, we cloned the mouse homologue Mtsga10. Mtsga10 localizes to mouse chromosome 1, band B. This region is syntenic with human chromosome 2q11.2, where Tsga10 is located. We demonstrate that Mtsga10 mRNA is expressed in testis, but not in other adult tissues, and in several human fetal tissues and primary tumors. We uncovered that different species use different first exons and, consequently, different promoters. Using several antibodies, we discovered that, in mouse testis, Mtsga10 encodes a 65-kDa spermatid protein that appears to be processed to a 27-kDa protein of the fibrous sheath, a major sperm tail structure, in mature spermatozoa. Mtsga10 protein contains a putative myosin/Ezrin/radixin/moesin (ERM) domain. Transfection of fibroblasts with GFP-Mtsga10 fusion protein results in formation of short, thick filaments and deletion of the myosin/ERM domain abolished filament formation. Our results suggest the possibility that Tsga10 plays a role in the sperm tail fibrous sheath.

We describe the isolation of a novel gene, TSGA10, by differential mRNA display which is expressed solely in adult human testis. It seems likely that the gene is expressed during spermatogenesis possibly in spermatocytes. The gene is composed of 19 exons extending over more than 80 kb. The complete cDNA contains an open reading frame of 2094 nucleotides, which appears to encode a novel protein. It has been mapped by polymerase chain reaction on a panel of somatic cell hybrids and by fluorescence in situ hybridization to chromosome 2q11.2.

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G proteins play vital roles in cellular responses to external signals. The specificity of G protein-receptor interaction is mediated mostly by the gamma-subunit and the individual members of the gamma-subunit multigene family would hence be expected to each have a particular expression profile. In an experiment designed to isolate genes expressed predominantly in human testis we identified a cDNA fragment corresponding to the gamma2 gene. Although the protein sequence of the gamma2 subunit has previously been published, the cDNA sequence, expression pattern, genomic structure, and localisation of the human GNG2 gene have not been described. We report the complete sequence of the GNG2 cDNA which is 1066 bp long and contains an open reading frame encoding a protein of 71 amino acids. This protein is 100% homologous to the bovine, mouse, and rat G protein gamma2 subunit. The gene structure is very similar to that of other Ggamma-subunit genes in that there are two introns, one located in the 5' UTR and the other within the ORF. We show that this gene is expressed in a range of foetal tissues as well as adult testis, adrenal gland, brain, white blood cells and lung but not in adult liver, muscle, sperm, prostate gland nor in the testes of two different infertile patients. There is evidence that GNG2 is expressed in malignant tissues. Using two independent methods, we have mapped the human GNG2 gene to chromosome 14q21.

Conference Abstract| October 01 2000 Identification and characterisation of testis specific genes which are involved in spermatogenesis Mohammad H. Modarressi; Mohammad H. Modarressi 1Biology Dept., UCL, Wolfson House, 4, Stephenson Way, London, NW1 2HE Search for other works by this author on: This Site PubMed Google Scholar Kay E. Taylor; Kay E. Taylor 1Biology Dept., UCL, Wolfson House, 4, Stephenson Way, London, NW1 2HE Search for other works by this author on: This Site PubMed Google Scholar Jonathan Wolfe Jonathan Wolfe 1Biology Dept., UCL, Wolfson House, 4, Stephenson Way, London, NW1 2HE Search for other works by this author on: This Site PubMed Google Scholar Biochem Soc Trans (2000) 28 (5): A236. https://doi.org/10.1042/bst028a236 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter LinkedIn Cite Icon Cite Get Permissions Citation Mohammad H. Modarressi, Kay E. Taylor, Jonathan Wolfe; Identification and characterisation of testis specific genes which are involved in spermatogenesis. Biochem Soc Trans 1 October 2000; 28 (5): A236. doi: https://doi.org/10.1042/bst028a236 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search nav search search input Search input auto suggest search filter All ContentAll JournalsBiochemical Society Transactions Search Advanced Search This content is only available as a PDF. © 2000 Biochemical Society2000 Article PDF first page preview Close Modal You do not currently have access to this content.

We describe the assembly of a cosmid and PAC contig of approximately 700 kb on human chromosome 18q12 spanning the DSC and DSG genes coding for the desmocollins and desmogleins. These are members of the cadherin superfamily of calcium-dependent cell adhesion proteins present in the desmosome type of cell junction found especially in epithelial cells. They provide the strong cell–cell adhesion generated by this type of cell junction for which expression of both a desmocollin and a desmoglein is required. In the autoimmune skin diseases pemphigus foliaceous and pemphigus vulgaris (PV), where the autoantigens are, respectively, encoded by the DSG1 and DSG3 genes, severe areas of acantholysis (cell separation), potentially life-threatening in the case of PV, are evident. Dominant mutations in the DSG1 gene causing striate palmoplantar keratoderma result in hyperkeratosis of the skin on the parts of the body where pressure and abrasion are greatest, viz., on the palms and soles. These genes are also candidate tumor suppressor genes in squamous cell carcinomas and other epithelial cancers. We have screened two chromosome 18-specific cosmid libraries by hybridization with previously isolated YAC clones and DSC and DSG cDNAs, and a whole genome PAC library, both by hybridization with the YACs and by screening by PCR using cDNA sequences and YAC end sequence. The contigs were extended by further PCR screens using STSs generated by vectorette walking from the ends of the cosmids and PACs, together with sequence from PAC ends. Despite screening of two libraries, the cosmid contig still had four gaps. The PAC contig filled these gaps and in fact covered the whole locus. The positions of 45 STSs covering the whole of this region are presented. The desmocollin and desmoglein genes, which are about 30–35 kb in size, are quite well separated at approximately 20–30 kb apart and are arranged in two clusters, one DSC cluster and one DSG cluster, which are transcribed outward from the interlocus region. The order of the genes is correlated with the spatial order of gene expression in the developing mouse embryo, and this, and previous transgenic experiments, suggests that long-range genetic elements that coordinate expression of these genes may be present. The complete bacterial clone contig described in this paper is thus a resource not only for future sequencing but also for investigations into the control of expression of these clustered genes.

Journal Article Two antiretroviral drugs likely to be confused Get access Jill T. Johnson, Pharm.D., BCPS, Jill T. Johnson, Pharm.D., BCPS Assistant Professor Department of Pharmacy Practice Search for other works by this author on: Oxford Academic Google Scholar Eddie B. Dunn, Pharm.D., Eddie B. Dunn, Pharm.D. Assistant Professor Department of Pharmaceutics Search for other works by this author on: Oxford Academic Google Scholar Jonathan J. Wolfe, Ph.D. Jonathan J. Wolfe, Ph.D. Associate Professor Department of Pharmacy Practice College of Pharmacy University of Arkansas for Medical Sciences 4301 West Markham Street, Slot 522 Little Rock, AR 72205-7122 Search for other works by this author on: Oxford Academic Google Scholar American Journal of Health-System Pharmacy, Volume 55, Issue 16, 15 August 1998, Pages 1728–1729, https://doi.org/10.1093/ajhp/55.16.1728 Published: 15 August 1998