Hereditary spinocerebellar ataxia type 17 (SCA17) is an autosomal dominantly inherited progressive degenerative disease of the nervous system. Also known as Huntington's disease-like 4(HDL4), SCA17 mainly features ataxia, muscle dystonia and psychiatric symptoms. The gene predisposing to SCA17 has been mapped and cloned, which encodes a TATA-binding protein (TBP). A CAG repeat expansion in the coding region of TBP gene can cause polyglutamine chain extension in the protein. This paper reviews recent progress in the research on SCA17 in regard to its clinical, etiology, pathology and pathogenesis.
Animals ; Humans ; Huntington Disease ; genetics ; pathology ; Spinocerebellar Ataxias ; genetics ; pathology ; TATA-Box Binding Protein ; genetics ; Trinucleotide Repeat Expansion

We used genetic methods to get a mutational spt15 gene from the recombinant strain Saccharomyces cerevisiae YPH499-3, screened by global transcription machinery engineering (gTME) approach. We transformed the gene into the original strain Saccharomyces cerevisiae YPH499 using the vector pYX212, then got a new recombinant strain. We studied the characteristic of this strain and found that it could metabolize xylose and co-ferment xylose and glucose. Under the fermentation condition of 30 degrees C, 200 r/min, 72 h, the utilization ratio of xylose was 82.0%, with 32.4% of ethanol yield when the carbon source in the media was 50 g/L xylose, while the utilization ratio of xylose and glucose was 80.4% and 100% respectively, with the 31.4% of ethanol yield when the carbon source was 50 g/L glucose/xylose (1:1). Meanwhile, the concentration of the by-product xylitol was very low. This study demonstrates the effect which the forward mutation of spt15 gene makes to the co-fermentation of xylose and glucose to ethanol by Saccharomyces cerevisiae.
Base Sequence ; Ethanol ; metabolism ; Genetic Engineering ; methods ; Glucose ; metabolism ; Molecular Sequence Data ; Mutation ; Saccharomyces cerevisiae ; genetics ; metabolism ; Saccharomyces cerevisiae Proteins ; genetics ; TATA-Box Binding Protein ; genetics ; Transformation, Genetic ; Xylose ; metabolism

The complementary oligonucleotides, each with two consensus estrogen response element (ERE)-sequences and 5'-Hind III and 3'-Sph I sticky ends were artificially synthesized. A solution with both the complementary DNA sequences was heated to 95'C and cooled down to room temperature to form double strand DNA (dsDNA). The set was cloned into the corresponding sites of CYC1 promoter of the pERE-CYC-yEGFP to yield pERE-CYCalpha-yEGFP vector. The two different reporter vectors, pERE-CYC-yEGFP and pERE-CYCalpha-yEGFP, the 2ERE, were placed in the CYC1 promoter. The former promoter downstream ERE contains alpha and beta-TATA boxes and the latter has only alpha-TATA box. The two different reporter vectors were transformed into the yeast cells that express human estrogen receptor alpha (ERalpha). Incubation of the recombinant yeasts with the six estrogenic compounds for 4 hours showed that the recombinant cell containing pERE-CYCalpha-yEGFP would give very poor dose-response curves, in contrast to the recombinant cell containing pERE-CYC-yEGFP which produced well-shaped dose-response curves. So it is necessary for this bioassay that alpha and beta-TATA boxes in the minimal CYC1 promoter when the promoter is used as a rapid and high throughput system for screening estrogenic chemical products.
Base Sequence ; Cytochromes c ; biosynthesis ; genetics ; Estrogen Receptor alpha ; genetics ; metabolism ; Estrogens ; genetics ; metabolism ; Genetic Vectors ; Green Fluorescent Proteins ; genetics ; metabolism ; Humans ; Molecular Sequence Data ; Promoter Regions, Genetic ; genetics ; Recombinant Proteins ; biosynthesis ; genetics ; Saccharomyces cerevisiae ; genetics ; metabolism ; Saccharomyces cerevisiae Proteins ; biosynthesis ; genetics ; TATA-Box Binding Protein ; genetics

OBJECTIVE: To determine and verify the correlation formula of age estimation using the content of signal joint T-cell receptor excision DNA circle (sjTREC) in human peripheral blood and to discuss its application value in forensic biological practice. METHODS: The samples of peripheral blood stains were collected from 30 healthy unrelated individuals whose ages were known. The DNAs were extracted from the samples stored at room temperature after 4 weeks. The content of sjTREC was measured by real-time fluorescent quantitative PCR technique, and the TATA box binding protein (TBP) was selected as reference genes. The age of each sample was predicted with the formula which was Age = -7.181 5 Y-42.458 +/- 9.42 (Y = dCtTBP-sjTREC), and the result was compared with the real age of each individual to determine the accuracy of the formula. RESULTS: sjTREC and TBP gene were detectable in all 30 samples of peripheral blood. The contents of sjTREC in human peripheral blood showed a decreasing tendency with aging. The accuracy rate for the age estimation by this method was 76.67%. CONCLUSION The method for the age estimation with the content of sjTREC was simple, fast, sensitive, and good species specific with important potential application prospect.
Adolescent ; Adult ; Aged ; Aging/blood* ; Blood Stains ; Child ; Child, Preschool ; DNA/genetics* ; DNA Primers/genetics* ; Female ; Forensic Genetics/methods* ; Gene Rearrangement, T-Lymphocyte/genetics* ; Humans ; Infant ; Male ; Middle Aged ; Real-Time Polymerase Chain Reaction/methods* ; Sensitivity and Specificity ; TATA-Box Binding Protein/genetics* ; Young Adult