RESUMEN
The variable microsatellite repeat BM224 has been discovered in the genomes of eight species of green frogs (Rana ridibunda, R. cf bedriagae, R. cretensis, R. esculenta, R. lessonae, R. shquiperica, R. saharica, R. nigromaculata). Earlier, this repeat had been observed in members of the genus Bufo. In this paper, a possibility of usage of this genetic marker for species identification is discussed.
Asunto(s)
Variación Genética/genética , Genoma/genética , Repeticiones de Microsatélite/genética , Animales , Marcadores Genéticos , Ranidae , Especificidad de la EspecieRESUMEN
This is a short review of recently described copy number variation of some segments of DNA. The origin of this phenomenon, the localization of these segments and their possible role in regulation of gene expression are discussed. The copy number variation should be regarded as a new form of genomic diversity.
Asunto(s)
Dosificación de Gen , Variación Genética , Genoma/genética , Animales , HumanosRESUMEN
BACKGROUND AND PURPOSE: To identify, using a genetic model, a key role for the renin-angiotensin system (RAS) in the development of dyscirculatory encephalopathy (DE) in Chernobyl cleanup workers (CCW). The insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene denotes a substantial individual variation in RAS activity with the D-allele being associated with higher ACE activity. METHODS: Ninety-three male, Caucasian CCW were recruited from those under regular review at the All-Russia Centre of Emergency and Radiation Medicine, St. Petersburg. The presence or absence of DE was determined using existing institutional guidelines. ACE genotype was determined using internationally accepted methodologies. RESULTS: Angiotensin-converting enzyme genotype distribution in 59 subjects with DE was II: 10 (17%), ID: 31 (53%), DD: 18 (30%), D-allele frequency 56.8%. Whereas in those without the condition the distribution was II: 12 (35%), ID: 19 (56%), DD 3 (9%) and D-allele frequency 35.9% (P = 0.02). CONCLUSIONS: These data are the first to identify an association between the ACE D-allele and DE in CCW. They provide evidence of a significant role for the RAS in the development of DE and suggest that clinical trials of ACE inhibition would be profitable in this group.
Asunto(s)
Accidente Nuclear de Chernóbil , Demencia Vascular/genética , Predisposición Genética a la Enfermedad/genética , Peptidil-Dipeptidasa A/genética , Traumatismos por Radiación/genética , Liberación de Radiactividad Peligrosa/mortalidad , Estudios de Cohortes , Demencia Vascular/enzimología , Demencia Vascular/fisiopatología , Pruebas Genéticas , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Traumatismos por Radiación/fisiopatología , Distribución AleatoriaRESUMEN
Different fragments of promoters of deoxyribonuclease II (DNAse II) and calcium-modulating cyclophilin ligand (CAML) associated with Alu family repeats have been inserted into a luciferase reporter vector. These constructions were introduced into A549 and HEK293 cell lines and after transient transfection we lysed cells and analysed luciferase activities in these lysates. It has been shown that Alu repeats localized in constructions influence expression of luciferase. Therefore, Alu copies which are associated with cis-regulatory modules of protein-coding genes have biological activity.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Elementos Alu/genética , Retroelementos/genética , Línea Celular , Endodesoxirribonucleasas/genética , Regulación de la Expresión Génica , Humanos , Transcripción GenéticaRESUMEN
Using computer-based methods we determined the global distribution of short interspersed nuclear elements (SINEs) in the human and mouse X chromosomes. It has been shown that this distributions is similar to the distributions of CpG islands and genes but is different from the distribution of LINE1 elements. Since SINEs (human Alu and mouse B2) may have binding sites for Polycomb protein YY1, we suggest that these repeats can serve as additional signals ("boosters") in Polycomb-dependent silencing of gene rich segments during X inactivation.
Asunto(s)
Elementos de Nucleótido Esparcido Corto/genética , Cromosoma X/genética , Elementos Alu/genética , Animales , Procesamiento Automatizado de Datos , Femenino , Heterocromatina/metabolismo , Humanos , Mamíferos/genética , Ratones , Elementos de Nucleótido Esparcido Corto/fisiología , Cromosoma X/metabolismo , Inactivación del Cromosoma X , Factor de Transcripción YY1/metabolismoRESUMEN
We studied variation of microsatellites BM224 and Bcal7 in three species of the Bufo viridis diploid-polyploid complex. We found that locus Bcal7 in all examined samples was monomorphic. Three alleles of microsatellite BM224 were found. Among tetraploid toads, the western species B. oblongus had only one allele variant, whereas the eastern species B. pewzowi had two other alleles. Similar distribution of alleles was observed in triploid specimens, collected in the area borders of tetraploid and diploid species. Among samples of diploid toad B. viridis, we found all three allele variants of microsatellite BM224. Their distribution was geographically determined. A comparison of allele distribution with genome size variation in diploid toads showed very similar patterns.
Asunto(s)
Bufonidae/genética , Núcleo Celular/genética , Repeticiones de Microsatélite/genética , Ploidias , África del Norte , Alelos , Animales , Asia , Europa (Continente) , Variación Genética , Especificidad de la EspecieRESUMEN
An association between insertion/deletion polymorphism (IDP) of the Alu repeat in intron 16 of the angiotensin I-converting enzyme (ACE) gene and the serum free amino acid levels in the patients with connective tissue dysplasias was examined. Genotyping of 102 patients (25 II, 51 ID, and 26 DD) was performed using PCR. Serum free amino acids levels in these patients were determined by use of HPLC technique. A statistically significant increase of the leucine-isoleucine (P < 0.05) and phenylalanine (P < 0.01) levels in deletion homozygous patients (DD) relative insertion homozygous (II) patients was observed. The differences in respect of other amino acids were not detected. These findings point to the importance of registration of IDP in the ACE gene at dietary therapy of such patients, as well as in the individual choice of medical preparations containing the amino acids mentioned.