Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.7.48 (transcriptase)
 9,479 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Murine heme oxygenase-2 (HO-2) cDNA sequences were determined through the assembly of mouse expressed sequence tag (EST) sequences using the rat HO-2 sequence as a template. The sequence analysis revealed two mRNA isoforms, probably arising through alternative splicing, which differed in their 5'-untranslated region (UTR), and were named HO-2a and HO-2b. One EST sequence included an extended 3'-UTR and suggested there may be a choice of poly-adenylation (poly-A) signal sequence. Reverse transcriptase polymerase chain reaction (PCR) suggested that HO-2a mRNA may be specifically expressed in the testis, while HO-2b mRNA was present in all tissues analysed. Furthermore, HO-2a and HO-2b transcripts were both found to include the extended 3'-UTR, but these transcripts were detected only in the testis. Northern analysis of a greater range of tissues confirmed the testis-specific expression of HO-2a mRNA and suggested that the transcripts which included the extended 3'-UTR were a small minority of the HO-2 mRNA population. These alternative murine HO-2 transcripts suggest that mechanisms such as mRNA transport, translational efficiency or mRNA turnover may be implicated in the regulation of HO-2 gene expression, most notably in the testis.
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PMID:The identification and expression of heme oxygenase-2 alternative transcripts in the mouse. 979 3

The rat Hst70 gene and its mouse counterpart Hsp70.2 belong to the family of Hsp70 heat shock genes and are specifically expressed in male germ cells. Previous studies regarding the structure of the 5' region of the transcription unit of these genes as well as localization of the 'cis' elements conferring their testis-specific expression gave contradictory results [Widlak, Markkula, Krawczyk, Kananen and Huhtaniemi (1995) Biochim. Biophys. Acta 1264, 191-200; Dix, Rosario-Herrle, Gotoh, Mori, Goulding, Barret and Eddy (1996) Dev. Biol. 174, 310-321]. In the present paper we solve these controversies and show that the 5' untranslated region (UTR) of the Hst70 gene contains an intron which is localized similar to that of the mouse Hsp70.2 gene. Reverse transcriptase-mediated PCR, Northern blotting and RNase protection analysis revealed that the transcription initiation of both genes starts at two main distant sites, and one of them is localized within the intron. As a result two populations of Hst70 gene transcripts with similar sizes but different 5' UTR structures can be detected in total testicular RNA. Functional analysis of the Hst70 gene promoter in transgenic mice and transient transfection assays proved that the DNA fragment of approx. 360 bp localized upstream of the ATG transcription start codon is the minimal promoter required for testis-specific expression of the HST70/chloramphenicol acetyltransferase transgene. These experiments also suggest that the expression of the gene may depend on 'cis' regulatory elements localized within exon 1 and the intron sequences.
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PMID:Structure of the 5' region of the Hst70 gene transcription unit: presence of an intron and multiple transcription initiation sites. 1156 76

Digital Differential Display (DDD) of the National Center for Biotechnology Information (NCBI) is a quantitative method that enables the user to determine the fold differences between the libraries being compaired, using a statistical method to quantitate the transcript levels. In this study, DDD program was performed between nine testis libraries ('tester') and seventy-six libraries derived from other tissues ('driver'). We identified a new contig of expression sequence tags (ESTs) HS. 129794 which were from testis libraries. To validate the use of bioinformatics approaches in gene discovery, the ESTs HS. 129794, which was predicted to be testis -specific, was chosen for further study. Reverse transcriptase polymerase chain reaction (RT-PCR) analysis of mRNA from different normal tissues indicated that HS. 129794 was specifically expressed in human testis. By querying EST and Unigene datagases, a full-length cDNA sequence of novel gene in human were identified, it was 2 430 bp in length, located in chromosome 3p21.1. The sequence of the open reading frame was 676 approximately 1 248 bp, as was confirmed by RT-PCR and sequencing in human testis. The cDNA encodes a novel protein of 190 amino acids with a theoretical molecular weight of 20 417.8 and isoelectric point of 5.23. The sequence shares no significant homology with any known protein in databases. Semi-quantitative RT-PCR analysis of multiple tissues further showed that the novel gene is expressed significantly in different stage of human testis and sperm. We hypothensize that its functions as a testis-specific and spermatogenesis related gene that plays some roles in spermatogenesis, and named it SRG5 (Testis Spermatogenesis Related Gene 5, SRG5) (GeneBank accession number: AY221117). Identification of SRG5 using DDD approaches validates gene discovery using computational approaches.
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PMID:[Molecular cloning and expression analysis of a novel human testis-specific gene]. 1549 Aug 70

Male infertility has become an increasingly common health concern in recent years. Apart from environmental factors, nutrition, lifestyle, and sexually transmitted diseases, genetic defects are important causes of male infertility. Many genes have been demonstrated to be associated with male infertility. However, the roles of some functional genes in infertility, especially those that are specifically expressed in the reproductive system, remain to be elucidated. Here, we demonstrated that the testis-specific gene coiled-coil domain-containing 87 (Ccdc87) is critical for male fertility. Reverse-transcriptase polymerase chain reaction and western blot analyses revealed that the Ccdc87 mRNA and protein were only expressed in mouse testis. Ccdc87 expression first appeared at postnatal day 14 and remained at a relatively high level until adulthood. Male mice lacking Ccdc87 gene (Ccdc87-/-) were found to be subfertile. Approximately 20% of Ccdc87-null sperm from the testis and epididymis displayed severe abnormity of acrosome and cell nucleus. Sperm isolated from the cauda epididymides of Ccdc87-/- mice exhibited decreased initial motility but did not show any change in capacitation. Additionally, Ccdc87 disruption led to the impotency of sperm spontaneous and progesterone-induced acrosome reaction. Moreover, in vitro fertilization assays indicated that the fertilizing capacity of Ccdc87-/- sperm was significantly reduced. Taken together, these findings provide a new clue to understand the genetic causes of male infertility.
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PMID:Ccdc87 is critical for sperm function and male fertility. 2973 32