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Results for “genomic sequence”

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At least 1,603 records · Page 89Linked to original sources
PubMed2025

The genome sequence of the comb-clawed beetle, Prionychus ater (Fabricius, 1775) (Coleoptera: Tenebrionidae).

We present a genome assembly from an individual male Prionychus ater (comb-clawed beetle; Arthropoda; Insecta; Coleoptera; Tenebrionidae). The assembly contains two haplotypes with total lengths of 385.22 megabases and 347.54 megabases. Most of haplotype 1 (97.6%) is scaffolded into 14 chromosomal pseudomolecules, including the X sex chromosome. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 16.26 kilobases. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Prionychus ater; comb-clawed beetle; genome sequen↗
PubMed2025

The genome sequence of the Orange Beauty, Commophila aeneana (Hübner, 1799-1800) (Lepidoptera: Tortricidae).

We present a genome assembly from a female Commophila aeneana (Orange Beauty; Arthropoda; Insecta; Lepidoptera; Tortricidae). The assembly consists of two haplotypes with total lengths of 429.47 megabases and 322.66 megabases. Most of haplotype 1 (99.82%) is scaffolded into 25 chromosomal pseudomolecules, including the W and Z sex chromosomes., and most of haplotype 2 (99.71%) is scaffolded into 23 chromosomal pseudomolecules. The mitochondrial genome has also been assembled, with a length of 16.5 kilobases.

Commophila aeneana; Orange Beauty; Orange Conch; g↗
PubMed2026

The genome sequence of the Downland Conch, Aethes tesserana (Denis & Schiffermüller) , 1775 (Lepidoptera: Tortricidae).

We present a genome assembly from an individual male Aethes tesserana (Downland Conch; Arthropoda; Insecta; Lepidoptera; Tortricidae). The assembly contains two haplotypes with total lengths of 486.12 megabases and 482.92 megabases. Most of haplotype 1 (99.81%) is scaffolded into 30 chromosomal pseudomolecules, including the Z sex chromosome. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.54 kilobases. This assembly was generated as part of the Darwin Tree of Life project, which produces genomes for eukaryotic species found in Britain and Ireland.

Aethes tesserana↗
PubMed2026

The genome sequence of the Marbled Maple moth, Altenia scriptella (Hübner, 1796) (Lepidoptera: Gelechiidae).

We present a genome assembly from an individual female Altenia scriptella (Marbled Maple moth; Arthropoda; Insecta; Lepidoptera; Gelechiidae). The assembly contains two haplotypes with total lengths of 506.56 megabases and 440.34 megabases. Most of haplotype 1 (99.51%) is scaffolded into 33 chromosomal pseudomolecules, including the W and Z sex chromosomes. The assembly also includes two B chromosomes. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.3 kilobases. This assembly was generated as part of the Darwin Tree of Life project, which produces genomes for eukaryotic species found in Britain and Ireland.

Altenia scriptella↗
PubMed2003

Complete genomic sequence of the Australian south-west genotype of Sindbis virus: comparisons with other Sindbis strains and identification of a unique deletion in the 3'-untranslated region.

Our previous studies have shown that two distinct genotypes of Sindbis (SIN) virus occur in Australia. One of these, the Oriental/Australian type, circulates throughout most of the Australian continent, whereas the recently identified south-west (SW) genetic type appears to be restricted to a distinct geographic region located in the temperate south-west of Australia. We have now determined the complete nucleotide and translated amino acid sequences of a SW isolate of SIN virus (SW6562) and performed comparative analyses with other SIN viruses at the genomic level. The genome of SW6562 is 11,569 nucleotides in length, excluding the cap nucleotide and poly (A) tail. Overall this virus differs from the prototype SIN virus (strain AR339) by 23% in nucleotide sequence and 12.5% in amino acid sequence. Partial sequences of four regions of the genome of four SW isolates were determined and compared with the corresponding sequences from a number of SIN isolates from different regions of the World. These regions are the non-structural protein (nsP3), the E2 gene, the capsid gene, and the repeated sequence elements (RSE) of the 3'UTR. These comparisons revealed that the SW SIN viruses were more closely related to South African and European strains than to other Australian isolates of SIN virus. Thus the SW genotype of SIN virus may have been introduced into this region of Australia by viremic humans or migratory birds and subsequently evolved independently in the region. The sequence data also revealed that the SW genotype contains a unique deletion in the RSE of the 3'UTR region of the genome. Previous studies have shown that deletions in this region of the SIN genome can have significant effects on virus replication in mosquito and avian cells, which may explain the restricted distribution of this genotype of SIN virus.

Animals↗
PubMedDate not supplied

Water buffalo (Bubalus bubalis): complete nucleotide mitochondrial genome sequence.

In this work, we report the whole sequence of the water buffalo (Bubalus bubalis) mitochondrial genome. The water buffalo mt molecule is 16.355 base pair length and shows a genome organization similar to those reported for other mitochondrial genome. These new data provide an useful tool for many research area, i.e. evolutionary study and identification of food origin.

Animals↗
PubMed1988

Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene.

A genomic clone was isolated from a human lymphoid cell line which synthesized an NH2-terminally deleted gamma 3 heavy chain disease protein. Nucleotide sequence analysis revealed a normal sequence from 310 bp 5' to the initiator ATG through the codon for VH amino acid 14. Amino acid 15 was derived from the codon for the last J4 amino acid. Thus, the clone contained a deletion of the codons for the VH region beyond amino acid 14, as well as those for the entire D region and most of the J coding region. Some sequence abnormalities were observed in the 400 bp after the deletion. Beyond this, there was excellent homology to published J and intervening sequences, including those containing the enhancer elements. The 1,200-bp switch region was abruptly interrupted by a sequence corresponding to the 3' one-third of CH1. Thus, a second deletion eliminated the acceptor splice site at the 5' end of CH1. When splicing of the primary RNA transcript occurred, the truncated VH region was joined via the J4 donor splice site to the next available acceptor site 5' to the first hinge exon. Hence, the aberrant serum protein was the product of two deletions and a splice correction as well as postsynthetic NH2-terminal proteolysis.

Amino Acid Sequence↗
PubMed2003

New trends in bioinformatics: from genome sequence to personalized medicine.

Molecular medicine requires the integration and analysis of genomic, molecular, cellular, as well as clinical data and it thus offers a remarkable set of challenges to bioinformatics. Bioinformatics nowadays has an essential role both, in deciphering genomic, transcriptomic, and proteomic data generated by high-throughput experimental technologies, and in organizing information gathered from traditional biology and medicine. The evolution of bioinformatics, which started with sequence analysis and has led to high-throughput whole genome or transcriptome annotation today, is now going to be directed towards recently emerging areas of integrative and translational genomics, and ultimately personalized medicine.Therefore considerable efforts are required to provide the necessary infrastructure for high-performance computing, sophisticated algorithms, advanced data management capabilities, and-most importantly-well trained and educated personnel to design, maintain and use these environments. This review outlines the most promising trends in bioinformatics, which may play a major role in the pursuit of future biological discoveries and medical applications.

Computational Biology↗
PubMed2026

The genome sequence of the Southern Grizzled Skipper, Pyrgus malvoides (Elwes & Edwards, 1897) (Lepidoptera: Hesperiidae).

We present a genome assembly from a male specimen of Pyrgus malvoides (Southern Grizzled Skipper; Arthropoda; Insecta; Lepidoptera; Hesperiidae). The assembly contains two haplotypes with total lengths of 746.71 megabases and 747.11 megabases. Most of haplotype 1 (99.8%) is scaffolded into 31 chromosomal pseudomolecules, including the Z sex chromosome. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.41 kilobases. Gene annotation of this assembly on Ensembl identified 14,715 protein-coding genes.

Lepidoptera↗
PubMed2026

The genome sequence of the Red-underwing Skipper, Spialia sertorius (Hoffmannsegg, 1804) (Lepidoptera: Hesperiidae).

We present a genome assembly from a female specimen of Spialia sertorius (Red-underwing Skipper; Arthropoda; Insecta; Lepidoptera; Hesperiidae). The assembly contains two haplotypes with total lengths of 364.57 megabases and 323.91 megabases. Most of haplotype 1 (99.92%) is scaffolded into 32 chromosomal pseudomolecules, including the W and Z sex chromosomes. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.34 kilobases. Gene annotation of this assembly on Ensembl identified 12,823 protein-coding genes.

Lepidoptera↗
PubMed2002

Genome sequencing of a 239-kb region of rice chromosome 10L reveals a high frequency of gene duplication and a large chloroplast DNA insertion.

In this study we describe a 239-kb region on the long arm of rice chromosome 10 that contains a high density (71%) of locally duplicated genes, including 24 copies of a glutathione S-transferase gene. Intriguingly, embedded within this cluster is a large insertion (approximately 33 kb) of rice (Oryza sativa) chloroplast DNA that is derived from two separate regions of the chloroplast genome. We used DNA fiber-based fluorescence in situ hybridization (fiber-FISH) analyses of O. sativa spp. japonica nuclei to confirm that the insertion of organellar DNA was not a cloning artifact. The sequence of the chloroplast insertion is nearly identical (99.7% identity) to the corresponding regions in the published rice chloroplast genome sequence, suggesting that the transfer event occurred recently. PCR amplification and sequence analysis in two subspecies of rice, O. sativa spp. japonica and spp. indica, indicates that the transfer event predated the divergence of these two subspecies. The chloroplast insertion is flanked by a 2.1-kb perfect direct repeat that is unique to this location in the rice genome.

Base Sequence↗
PubMed2026

Complete Genome Sequencing of Occult Hepatitis B Virus in Hemodialysis Patients Reveals Subgenotype D2 and Immune Escape Mutations in Bangladesh.

Hepatitis B virus (HBV) remains a major global health concern, and occult HBV infection (OBI) presents significant diagnostic and clinical challenges, particularly among hemodialysis (HD) patients. This study is aimed at characterizing complete HBV genomes from maintenance HD patients with OBI in Bangladesh to elucidate genetic features, mutational patterns, and clinical implications. Serum samples from two HBsAg-negative HD patients were screened by ELISA and quantitative PCR. Viral DNA was amplified by PCR across four overlapping open reading frames (ORFs) and sequenced on the Illumina platform. Genome assembly, phylogenetic analysis, and mutational profiling were performed using reference datasets and bioinformatics tools. Antigenicity and hydrophilicity of HBsAg were predicted in silico. Both patients were anti-HBc and anti-HBs positive with high HBV DNA loads (2.29 × 1010 and 2.53 × 1010 copies/mL). Full-length genomes (3182 bp) were successfully sequenced and phylogenetic analysis showed both HBV genomes clustered within Genotype D, Subgenotype D2, and subtype ayw3, consistent with previously reported Bangladeshi HBV genomes. Comparative mutational analysis identified substitutions such as T1753C in the basal core promoter, C1845T in preC, and D144E within the "a" determinant of HBsAg, suggesting potential roles in vaccine escape, immune escape, and diagnostic failure. Several nonsynonymous mutations were also detected in polymerase, though none were potentially associated with antiviral resistance. Antigenicity and hydrophilicity profiles of HBsAg and its major hydrophilic region remained largely conserved. These findings demonstrate the persistence of OBI in HD patients and provide an initial indication of the need for genomic surveillance to monitor immune-escape mutations and improve HBV diagnostic strategies in endemic regions.

HBV genome sequencing↗
PubMed2026

Genome sequences of six Enterobacter phages of the genus Karamvirus.

Here, we describe the genomes of six Enterobacter bacteriophages (phages) of the genus Karamvirus. The range of genome length, GC content, and number of predicted protein-coding sequences were, respectively, 171,900-175,675 bp, 39.54-39.82%, and 298-316. Genomic analysis indicates that these phages have a lytic lifestyle and are suitable for therapeutic use.

Enterobacter cloacae↗
PubMed2026

Genome sequence of Staphylococcus epidermidis H1G7 from hilsa (Tenualosa ilisha) gut.

We report the genome of Staphylococcus epidermidis strain H1G7 from hilsa (Tenualosa Ilisha) fish gut. Nanopore sequencing produced a 2.5-Mb assembly (32% GC, two contigs). The genome encodes metal-chelate transport, short-chain fatty acid production, and biosynthetic clusters and lacks virulent factors, revealing genomic features potentially associated with beneficial host interactions.

cyclodipeptide synthase↗
PubMed1999

Island length distribution in genome sequencing.

We consider the general problem of constructing a physical map of a genome by welding islands of overlapping clones. Both distribution of clone length and non-uniform probability of overlap detection are taken into account, the latter restricted to the Markov case in which only the location of the end of the developing island is required. Exact results for the distribution of island length are obtained in the special cases of fixed clone length or rigid overlap criterion, and mean and variance for the general situation. Determination of ocean length distribution permits island number and contig number distributions to be found as well.

Chromosome Mapping↗
PubMed2021

Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of multiple cysts in the kidneys. It is often caused by pathogenic mutations in PKD1 and PKD2 genes that encode polycystin proteins. Although the molecular mechanisms for cystogenesis are not established, concurrent inactivating germline and somatic mutations in PKD1 and PKD2 have been previously observed in renal tubular epithelium (RTE). METHODS: To further investigate the cellular recessive mechanism of cystogenesis in RTE, we conducted whole-genome DNA sequencing analysis to identify germline variants and somatic alterations in RTE of 90 unique kidney cysts obtained during nephrectomy from 24 unrelated participants. RESULTS: Kidney cysts were overall genomically stable, with low burdens of somatic short mutations or large-scale structural alterations. Pathogenic somatic "second hit" alterations disrupting PKD1 or PKD2 were identified in 93% of the cysts. Of these, 77% of cysts acquired short mutations in PKD1 or PKD2 ; specifically, 60% resulted in protein truncations (nonsense, frameshift, or splice site) and 17% caused non-truncating mutations (missense, in-frame insertions, or deletions). Another 18% of cysts acquired somatic chromosomal loss of heterozygosity (LOH) events encompassing PKD1 or PKD2 ranging from 2.6 to 81.3 Mb. 14% of these cysts harbored copy number neutral LOH events, while the other 3% had hemizygous chromosomal deletions. LOH events frequently occurred at chromosomal fragile sites, or in regions comprising chromosome microdeletion diseases/syndromes. Almost all somatic "second hit" alterations occurred at the same germline mutated PKD1/2 gene. CONCLUSIONS: These findings further support a cellular recessive mechanism for cystogenesis in ADPKD primarily caused by inactivating germline and somatic variants of PKD1 or PKD2 genes in kidney cyst epithelium.

Humans↗