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1.
Am J Hum Genet ; 87(4): 465-79, 2010 Oct 08.
Artículo en Inglés | MEDLINE | ID: mdl-20887964

RESUMEN

By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different heterozygous WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q) in WD domains important for ß propeller formation and protein-protein interaction. In addition, we discovered that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfactory neurons, and that missense alterations reduce or abolish this interaction. Our findings suggest that impaired pubertal development in these patients results from a deficiency of productive WDR11 protein interaction.


Asunto(s)
Cromosomas Humanos Par 10/genética , Proteínas de Homeodominio/genética , Hipogonadismo/genética , Síndrome de Kallmann/genética , Proteínas de la Membrana/genética , Proteínas Proto-Oncogénicas/genética , Pubertad/genética , Factores de Transcripción/genética , Translocación Genética/genética , Adolescente , Animales , Humanos , Immunoblotting , Inmunohistoquímica , Inmunoprecipitación , Hibridación in Situ , Hibridación Fluorescente in Situ , Masculino , Proteínas de la Membrana/metabolismo , Ratones , Análisis por Micromatrices , Mutación Missense/genética , Polimorfismo de Nucleótido Simple/genética , Proteínas Proto-Oncogénicas/metabolismo , Ratas , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Técnicas del Sistema de Dos Híbridos , Pez Cebra
2.
J Microbiol Biotechnol ; 20(8): 1204-9, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20798583

RESUMEN

We evaluated the antibacterial activities of selected edible Korean plant seeds against the food-borne pathogens Staphylococcus aureus KCTC1927, Escherichia coli KCTC2593, Salmonella typhimurium KCTC2054, and Bacillus cereus KCTC1014. While screening for antibacterial agents, we discovered that wheat germ extract contains 2,6-dimethoxy-1,4-benzoquinone (DMBQ) and is highly inhibitory to S. aureus and B. cereus. This is the first report of the antibacterial activity of wheat germ extract. We also investigated the antibacterial activities of the 1,4- benzoquinone standards 1,4-benzoquinone (BQ), hydroquinone (HQ), methoxybenzoquinone (MBQ), and 2,6-dimethoxy- 1,4-benzoquinone (DMBQ). DMBQ and BQ were the most highly inhibitory to S. aureus and S. typhimurium, followed by MBQ and HQ. MICs for DMBQ and BQ ranged between 8 and 64 microgram/ml against the four foodborne pathogens tested. DMBQ and BQ showed significant antibacterial activity; the most sensitive organism was S. aureus with an MIC of 8 microgram/ml. BQ exhibited good activity against S. typhimurium (32 microgram/ml) and B. cereus (32 microgram/ml). The results suggest that wheat germ extract has potential for the development of natural antimicrobials and food preservatives for controlling foodborne pathogens.


Asunto(s)
Antibacterianos/farmacología , Benzoquinonas/farmacología , Extractos Vegetales/farmacología , Triticum/química , Antibacterianos/química , Bacterias/efectos de los fármacos , Benzoquinonas/química , Pruebas de Sensibilidad Microbiana , Estructura Molecular , Extractos Vegetales/química
3.
Acta Crystallogr D Biol Crystallogr ; 60(Pt 2): 379-81, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-14747732

RESUMEN

The RecR protein plays a key role in the RecFOR pathway of recombination, which is necessary for the repair of ssDNA gaps. RecR from Deinococcus radiodurans has been overexpressed in Escherichia coli and crystallized at 297 K using polyethylene glycol 1000 as a precipitant. X-ray diffraction data to 2.90 A resolution have been collected at 100 K using Cu Kalpha X-rays from a mercury-soaked crystal. The crystal belongs to space group C222(1), with unit-cell parameters a = 106.96, b = 122.25, c = 156.01 A. The asymmetric unit contains four monomers of RecR, with a crystal volume per protein weight (V(M)) of 2.57 A(3) Da(-1) and a solvent content of 51.0%.


Asunto(s)
Proteínas Bacterianas/química , Cristalografía por Rayos X/métodos , Reparación del ADN , Deinococcus/metabolismo , Proteínas de Escherichia coli , ADN de Cadena Simple/química , Escherichia coli/metabolismo , Luz , Mercurio/química , Estructura Terciaria de Proteína , Recombinación Genética , Dispersión de Radiación , Solventes , Temperatura , Rayos X
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