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41.
Evolution of the Adh locus in the Drosophila willistoni group: the loss of an intron, and shift in codon usage 总被引:1,自引:0,他引:1
We report here the DNA sequence of the alcohol dehydrogenase gene (Adh)
cloned from Drosophila willistoni. The three major findings are as follows:
(1) Relative to all other Adh genes known from Drosophila, D. willistoni
Adh has the last intron precisely deleted; PCR directly from total genomic
DNA indicates that the deletion exists in all members of the willistoni
group but not in any other group, including the closely related saltans
group. Otherwise the structure and predicted protein are very similar to
those of other species. (2) There is a significant shift in codon usage,
especially compared with that in D. melanogaster Adh. The most striking
shift is from C to U in the wobble position (both third and first
position). Unlike the codon-usage-bias pattern typical of highly biased
genes in D. melanogaster, including Adh, D. willistoni has nearly 50% G + C
in the third position. (3) The phylogenetic information provided by this
new sequence is in agreement with almost all other molecular and
morphological data, in placing the obscura group closer to the melanogaster
group, with the willistoni group farther distant but still clearly within
the subgenus Sophophora.
相似文献
42.
Victor Borda Ronaldo da Silva Francisco Junior Joseane B. Carvalho Guilherme L. Morais tila Duque Rossi Paula Pezzuto Girlene S. Azevedo Bruno L. Schamber-Reis Elyzabeth A. Portari Adriana Melo Maria Elisabeth L. Moreira Letícia C. Guida Daniela P. Cunha Leonardo Gomes Zilton F. M. Vasconcelos Fabio R. Faucz Amilcar Tanuri Constantine A. Stratakis Renato S. Aguiar Cynthia Chester Cardoso Ana Tereza Ribeiro de Vasconcelos 《PLoS neglected tropical diseases》2021,15(6)
Congenital Zika Syndrome (CZS) is a critical illness with a wide range of severity caused by Zika virus (ZIKV) infection during pregnancy. Life-threatening neurodevelopmental dysfunctions are among the most common phenotypes observed in affected newborns. Risk factors that contribute to susceptibility and response to ZIKV infection may be related to the virus itself, the environment, and maternal genetic background. Nevertheless, the newborn’s genetic contribution to the critical illness is still not elucidated. Here, we aimed to identify possible genetic variants as well as relevant biological pathways that might be associated with CZS phenotypes. For this purpose, we performed a whole-exome sequencing in 40 children born to women with confirmed exposure to ZIKV during pregnancy. We investigated the occurrence of rare harmful single-nucleotide variants (SNVs) possibly associated with inborn errors in genes ontologically related to CZS phenotypes. Moreover, an exome-wide association analysis was also performed using a case-control design (29 CZS cases and 11 controls), for both common and rare variants. Five out of the 29 CZS patients harbored known pathogenic variants likely to contribute to mild to severe manifestations observed. Approximately, 30% of affected individuals carried at least one pathogenic or likely pathogenic SNV in genes candidates to play a role in CZS. Our common variant association analysis detected a suggestive protective effect of the rs2076469 in DISP3 gene (p-value: 1.39 x 10−5). The IL12RB2 gene (p-value: 2.18x10-11) also showed an unusual distribution of nonsynonymous rare SNVs in control samples. Finally, genes harboring harmful variants are involved in processes related to CZS phenotypes such as neurological development and immunity. Therefore, both rare and common variations may be likely to contribute as the underlying genetic cause of CZS susceptibility. The variations and pathways identified in this study may also have implications for the development of therapeutic strategies in the future. 相似文献
43.
Levy CB Stumbo AC Ano Bom AP Portari EA Cordeiro Y Carneiro Y Silva JL De Moura-Gallo CV 《The international journal of biochemistry & cell biology》2011,43(1):60-64
P53 is one of the most important tumor suppressor proteins in human cancers. Mutations in the TP53 gene are common features of malignant tumors and normally correlate to a more aggressive disease. In breast cancer, these gene alterations are present in approximately 20% of cases and are characteristically of missense type. In the present work we describe TP53 mutations in breast cancer biopsies and investigate whether wild and mutant p53 participate in protein aggregates formation in these breast cancer cases. We analyzed 88 biopsies from patients residing in the metropolitan area of Rio de Janeiro, and performed TP53 mutation screening using direct sequencing of exons 5-10. Seventeen mutations were detected, 12 of them were of missense type, 2 nonsenses, 2 deletions and 1 insertion. The presence of TP53 mutation was highly statistically associated to tumor aggressiveness of IDC cases, indicated here by Elston Grade III (p<0.0001). Paraffin embedded breast cancer tissues were analyzed for the presence of p53 aggregates through immunofluorescence co-localization assay, using anti-aggregate primary antibody A11, and anti-p53. Our results show that mutant p53 co-localizes with amyloid-like protein aggregates, depending on mutation type, suggesting that mutant p53 may form aggregates in breast cancer cells, in vivo. 相似文献
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45.
Background
The Burkholderia cepacia complex (Bcc) is a collection of nine genotypically distinct but phenotypically similar species. They show wide ecological diversity and include species that are used for promoting plant growth and bio-control as well species that are opportunistic pathogens of vulnerable patients. Over recent years the Bcc have emerged as problematic pathogens of the CF lung. Pseudomonas aeruginosa is another important CF pathogen. It is able to synthesise hydrogen cyanide (HCN), a potent inhibitor of cellular respiration. We have recently shown that HCN production by P. aeruginosa may have a role in CF pathogenesis. This paper describes an investigation of the ability of bacteria of the Bcc to make HCN. 相似文献46.