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Molecular cloning and characterization of a novel human gene containing 4 ankyrin repeat domains

100%

Li J. , Ji C. , Zheng H. , Fei X. , Zheng M. , Dai J. , Gu S. , Xie Y. , Mao Y.

Cellular and Molecular Biology Letters

2005

tom 10

nr 1

Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?

72%

Miyamato T. , Sato H. , Yogev L. , Kleiman S. , Namiki M. , Koh E. , Sakugawa N. , Hayashi H. , Ishikawa M. , Lamb D. J. , Sengoku K.

Cellular and Molecular Biology Letters

2006

tom 11

nr 4

FK506-binding protein 6 (Fkbp6) is a member of a gene family containing a prolyl isomerase/FK506-binding domain and tetratricopeptide protein-protein interaction domains. Recently, the targeted inactivation of Fkbp6 in mice has been observed to result in aspermic males and the absence of normal pachytene spermatocytes. The loss of Fkbp6 results in abnormal pairing and a misalignment of the homologous chromosomes, and in non-homologous partner switches and autosynapsis of the X chromosome cores in meiotic spermatocytes. In this study, we analyzed whether human FKBP6 gene defects might be associated with human azoospermia. We performed a mutation analysis in all the coding regions of the human FKBP6 gene in 19 patients with azoospermia resulting from meiotic arrest. The expression of the human FKBP6 gene was specific to the testis, and a novel polymorphism site, 245C → G (Y60X) could be found in exon 3. Our findings suggest that the human FKBP6 gene might be imprinted in the testis based on an analysis using two polymorphism sites.

A human putative Suv3-like RNA helicase is conserved between Rhodobacter and all eukaryotes

72%

Dmochowska A. , Kalita K. , Krawczyk M. , Golik P. , Mroczek K. , Lazowska J. , Stepien P. , Bartnik E.

nr 1

We have cloned and sequenced a cDNA of the human homologue of the Saccharomyces cerevisiae Suv3 putative RNA helicase which is indispensable for mitochondrial function in yeast. The human Suv-3-like protein has a typical mitochondrial leader sequence. Northern blot data and analysis of ESTs in the data banks indicate that this human gene (SUPV3L1) is expressed in practically all tissues, though at different levels. Sequence homology analysis has shown a strong conservation of the protein in a number of eukaryotic organisms - plants, mammals and fungi, but no close homologues exist in bacteria with the exception of the purple bacterium Rhodobacter sphaeroides. This gene is thus ubiquitously present in all eukaryotic organisms.

Mice and humans: chromosome engineering and its application to functional genomics

58%

Klysik J.

Acta Biochimica Polonica

2002

tom 49

nr 3

Functional modeling of human genes and diseases requires suitable mammalian model organisms. For its genetic malleability, the mouse is likely to continue to play a major role in defining basic genetic traits and complex pathological disorders. Recently, gene targeting techniques have been extended towards developing new engineering strategies for generating extensive lesions and rearrangements in mouse chromosomes. While these advances create new opportunities to address similar aberrations observed in human diseases, they also open new ways of scaling-up mutagensis projects that try to catalogue and annotate cellular functions of mammalian genes.

The structural and functional analysis of the human HSPA2 gene promoter region

58%

Piglowski W. , Nowak R. , Krawczyk Z. , Scieglinska D.

Acta Biochimica Polonica

2007

tom 54

nr 1

HSPA2 is a human counterpart of the testis-specific rodent Hst70/Hsp70.2 gene. In contrast to the latter, the expression of the human HSPA2 gene is not limited to the testis, and recent data show that human tumor cells can express this gene at significant levels. The characteristics of HSPA2 expression suggests that it can influence the phenotype and survival of cancer cells similarly as overexpression of major members of the HSP70 gene family. Until now, neither the structure of the transcription unit of the human HSPA2 gene has been established nor a functional analysis of its promoter performed. In this study we established that the human HSPA2 gene, in contrast to its rodent counterparts, is intronless and has a single transcription start site. We also show that the same type of HSPA2 transcripts are synthesized in the testes and in cancer cell lines. In order to perform a functional study of the HSPA2 promoter, we used a transient transfection assay and found that the 392 bp fragment upstream of the ATG codon was a minimal region required for efficient transcription, while a 150 bp deletion from the 5' end of this region dramatically reduced the promoter activity. Delineation of the minimal promoter is a basic step toward identifiying the cis and trans elements involved in the regulation of the HSPA2 gene expression in cancer cells.

Molecular diagnosis of human diseases based on direct analysis of gene transcripts

51%

Slomski R. , Kwiatkowska J.

Bulletin of the Polish Academy of Sciences. Biological Sciences

1993

tom 41

nr 2