Sequencing

Phylogenetic classification and clinical aspects of a new putative Deltapapillomavirus associated with skin lesions in cattle

T. C. Melo, Carvalho, R. F., Mazzucchelli-de-Souza, J., Diniz, N., Vasconcelos, S., Assaf, S. L. M. R., Araldi, R. P., Ruiz, R. M., Kerkis, I., Beçak, W., and Stocco, R. C., Phylogenetic classification and clinical aspects of a new putative Deltapapillomavirus associated with skin lesions in cattle, vol. 13, pp. 2458-2469, 2014.

Bovine papillomaviruses (BPVs) are recognized as causal agents of benign and malignant tumors in cattle. Thirteen types of BPVs have already been described and classified into 3 distinct genera. Divergences in the nucleotide sequence of the L1 gene are used to identify new viral types through the employment of PCR assays with degenerated primers. In the present study, a method for identifying BPVs based on PCR-RFLP and DNA sequencing allowed the identification of a new putative Deltapapillomavirus, designated JN/3SP (JQ280500.1).

α-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation leads to the A2B isoform

J. J. Lin, Wang, X. D., and Zhu, S. Y., α-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation leads to the A2B isoform, vol. 13, pp. 2987-2993, 2014.

In this study, the phenotypic identification and molecular mechanism of one case of an A2B subtype pedigree was investigated. ABO blood groupings were identified by serological methods and sequence amplification was performed by polymerase chain reaction (PCR) using TA cloning and DNA sequencing analysis to identify the pedigree and the ABO gene haploid of the proband. There were both A and B antigens on the proband's red blood cells, and anti-A1 antibodies were found in the serum.

Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia

P. C. Lee, Lam, H. H., Ghani, S. A., Subrayan, V., and Chua, K. H., Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia, vol. 13, pp. 3553-3559, 2014.

Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun ethnic family with aniridia.

Identification and authentication of Rosa species through development of species-specific SCAR marker(s)

K. M. I. Bashir, Awan, F. S., Khan, I. A., Khan, A. I., and Usman, M., Identification and authentication of Rosa species through development of species-specific SCAR marker(s), vol. 13, pp. 4130-4139, 2014.

Roses (Rosa indica) belong to one of the most crucial groups of plants in the floriculture industry. Rosa species have special fragrances of interest to the perfume and pharmaceutical industries. The genetic diversity of plants based on morphological characteristics is difficult to measure under natural conditions due to the influence of environmental factors, which is why a reliable fingerprinting method was developed to overcome this problem. The development of molecular markers will enable the identification of Rosa species.

DNA barcoding for species identification in the Palmae family

A. Naeem, Khan, A. A., Cheema, H. M. N., Khan, I. A., and Buerkert, A., DNA barcoding for species identification in the Palmae family, vol. 13, pp. 10341-10348, 2014.

DNA barcoding is a promising tool for species identification at the molecular level. The barcoding system is well established for species differentiation in animals, while it is less common in plants. We evaluated 2 barcoding regions, maturase K (matK) and ribulose bisphosphate carboxylase (rbcL), to compare species of Palmae according to amplification success, discrimination power, and inter- and intra-specific divergence.

A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient

F. Izadi, Mahjoubi, F., Farhadi, M., Tavakoli, M. M., and Samanian, S., A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient, vol. 11, pp. 3955-3960, 2012.

Lipoid proteinosis (LP) is a rare autosomal recessive disorder. Classical clinical features include warty skin infiltration, papules on the eyelids, skin scarring, as well as extracutaneous abnormalities such as hoarseness of the voice, epilepsy, and neuropsychiatric abnormalities. A defect in the ECM1 gene is responsible for this disease. A 21-year-old female patient from consanguineous parents (first cousins) was referred to our clinic with many symptoms of LP, such as hoarse voice from infancy, diffuse acneiform scars on her face, and hyperkeratosis on her knees and elbows.

Genes expressed in cotton (Gossypium hirsutum) buds isolated with a subtractive library

M. P. N. Pinheiro, Batista, V. G. L., Martins, N. F., Santos, R. C., Filho, P. A. Melo, Silva, C. R. C., and Lima, L. M., Genes expressed in cotton (Gossypium hirsutum) buds isolated with a subtractive library, vol. 12, pp. 37-43, 2013.

A subtractive cDNA library from cotton buds was constructed to prospect for differentially expressed genes related to early bud development. A library was constructed and 768 cDNA sequences were obtained, comprising 168 clusters, with 126 contigs and 42 singlets. Both the Gossypium as well as Arabidopsis databases were utilized for the in silico analysis, since some genes identified in cotton have not yet been studied for functionality, although they have homology with genes from other species.

A preliminary mutation analysis of phenylketonuria in southwest Iran

N. Ajami, Kazeminezhad, S. R., Foroughmand, A. M., Hasanpour, M., and Aminzadeh, M., A preliminary mutation analysis of phenylketonuria in southwest Iran, vol. 12, pp. 4958-4966, 2013.

Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. This study was designed to identify PAH mutations within exons 6, 7, and 10-12 in PKU patients from southwest Iran. Forty Iranian patients with clinical and biochemically confirmed PKU were enrolled.

A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico

L. García-Ortiz, Vargas-Alarcón, G., Fragoso, J. M., Granados, J., L. Noriega, M., A. Pérez, N., E. Reyes, H., Zenteno-Ruiz, J. C., and Martínez-Cordero, E., A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico, vol. 7, pp. 7-15, 2008.

The human orosomucoid 1 gene (ORM1) codes an alpha-1-acid glycoprotein that has been classified as an acute-phase reactive protein, and a major drug-binding serum component, as well as an immunomodulatory protein with genetic polymorphisms. Evaluation of ORM variation through isoelectric focusing and immunobloting has revealed a world-wide distribution of the ORM1 F and ORM1 S alleles.

Coordinated, network-based research as a strategic component of science in Brazil

A. J. G. Simpson, Camargo, A. A., Ferro, J. Aparecido, Parra, J., and Vasconcelos, A. Tereza, Coordinated, network-based research as a strategic component of science in Brazil, vol. 3, pp. 18-25, 2004.

Scientific research plays a fundamental role in the health and development of any society, since all technological advances depend ultimately on scientific discovery and the generation of wealth is intricately dependent on technological advance. Due to their importance, science and technology generally occupy important places in the hierarchical structure of developed societies, and they receive considerable public and private investment.

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