Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...

The pattern of molecular evolution of imprinted genes is controversial and the entire picture is still to be unveiled. Recently, a relationship between the formation of imprinted genes and gene duplication was reported in genome-wide survey of imprinted genes in Arabidopsis thaliana. Because gene duplications influence the molecular evolution of the duplicated gene family, it is necessary to in...

abstract a 2.5 year old girl is presented with both hands constriction bands leading to distal amputations and the rare deformity of shoulder duplication in the right side accompanying constriction skin marking over the affected shoulder. the cephalomedial scapula articulated with the clavicle and the caudolateral scapula articulated with humeral head. the most important physical finding which ...

Two complete genomes of human respiratory syncytial virus subtype A (HRSV-A), with and without a 72-nucleotide duplication in the C-terminal glycoprotein G gene, were sequenced and analyzed. Characterization of these genomes will improve understanding of the diversity, emergence, virulence, pathogenicity, and transmissibility of a novel RSV-A genotype with a 72-nucleotide G gene duplication.

The duplication of four cone-opsin gene families is heavily involved in visual adaptation in bony fish. We found that two gene families for the middle-wave range of the vision spectrum have, on average, older duplications followed by accelerated amino acid substitution, in comparison with the other two families that define the boundaries. This could be due to the difference in the potential to ...

Evolution of genes that specify cytosolic phosphoglucose isomerases (PGIs) has been studied in a natural intraspecific polyploid complex (Dactylis glomerata L.). Analyses of genetic control, polymorphism, and gene expression have been carried out in plants collected from numerous populations that belong to 14 diploid subspecies originating in the middle or at the end of the Tertiary period and ...

Opsin gene sequences were first reported in the 1980s. The goal of that research was to test the hypothesis that human opsins were members of a single gene family and that variation in human color vision was mediated by mutations in these genes. While the new data supported both hypotheses, the greatest contribution of this work was, arguably, that it provided the data necessary for PCR-based s...