1055 results about "Allelic gene" patented technology

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload inhibits expression or activity of a DMPK allele comprising a disease-associated-repeat. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide or RNAi oligonucleotide.

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload inhibits expression or activity of a DMPK allele comprising a disease-associated-repeat. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide or RNAi oligonucleotide.

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload inhibits expression or activity of a DMPK allele comprising a disease-associated-repeat. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide or RNAi oligonucleotide.

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload promotes the expression or activity of a functional dystrophin protein. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide, e.g., an oligonucleotide that causes exon skipping in a mRNA expressed from a mutant DMD allele.

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload promotes the expression or activity of a functional dystrophin protein. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide, e.g., an oligonucleotide that causes exon skipping in a mRNA expressed from a mutant DMD allele.

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload promotes the expression or activity of a functional dystrophin protein. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide, e.g., an oligonucleotide that causes exon skipping in a mRNA expressed from a mutant DMD allele.

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload promotes the expression or activity of a functional dystrophin protein. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide, e.g., an oligonucleotide that causes exon skipping in a mRNA expressed from a mutant DMD allele.

Among other things, the present disclosure pertains to methods and compositions related to phasing of allelic variants of genetic loci. Phasing of allelic variants of genetic loci on an individual patient's chromosomes is highly valuable for many purposes, including patient stratification for allele-specific therapeutics.

An MHCl binding peptide design method based on evolutionary information and a Transform neural network algorithm relates to the field of protein design, and comprises the following steps: S1, extracting evolutionary information features of alleles of MHCII molecules and binding core sequences of binding peptides corresponding to the alleles, S2, establishing a neural network model based on fusion of a convolution module and a Transform module, and S3, establishing a neural network model based on fusion of the convolution module and the Transform module, the method comprises the following steps: S1, extracting two frequency characteristic tensors from S11 and S12, taking the two frequency characteristic tensors extracted in S11 and S12 as double inputs, and finally obtaining probability distribution of 20 amino acids at each position of each sequence, and S3, according to an output result of a neural network model, carrying out random sampling according to the probability, and generating a binding core sequence of MHCII-peptide meeting target distribution. According to the method, evolutionary information such as sequence position amino acid frequency (first-order conservative analysis) and combined frequency (second-order conservative analysis) of amino acid pairs is introduced to design a new short peptide sequence, the problem that short peptides cannot be designed based on structures is solved, and the reliability of short peptide sequence design based on evolutionary information is provided.

The invention provides a method for deducing the abundance of each family in a group based on mixed pool simplified genome sequencing, which comprises the following steps of: (1) establishing a parent 2b-rad library, and extracting SNP (Single Nucleotide Polymorphism) genotypes and sites by using a 2b-rad standard process; combining the SNP genotypes of the 2n parents into genotypes of n parent pairs according to a male parent and female parent relationship; comparing the genotypes of the parent pairs, and determining family specific tags; (2) extracting offspring individual tissues, mixing, and carrying out DNA extraction and 2b-rad library building sequencing on the mixed sample tissues; counting the sequencing depth of all the specific tag sites and calculating the secondary allele frequency of the specific tag of the mixed sample filial generation; and (3) calculating the proportion of each family in the offspring according to the sequencing depth of the specific tag site and the secondary allele frequency of the specific tag of the mixed offspring. According to the method, the overall feature distribution of the family can be accurately evaluated without sequencing each individual, so that the cost is greatly reduced.

The invention discloses an anti-TP53 mutation T cell receptor and application thereof, the T cell receptor comprises specific alpha chain and beta chain variable domains, and the complementary determining region (CDR) sequence is shown as SEQ ID NO: 9-14. The TCR has the core advantage that the TCR has excellent broad-spectrum recognition capability, can target six different amino acid substitutions (A, G, I, N, S and T) at the R249 site, and effectively deals with tumor heterogeneity and mutation difference between patients. Aiming at high-frequency HLA-B * 07: 02 alleles in people, the TCR lays a foundation for developing TCR-T cell therapy covering a wide range of people, and has great clinical application value and market potential in treatment of various solid tumors carrying TP53 R249 hotspot mutation, such as liver cancer.

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload promotes the expression or activity of a functional dystrophin protein. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide, e.g., an oligonucleotide that causes exon skipping in a mRNA expressed from a mutant DMD allele.

The invention belongs to the technical field of pig molecular marker-assisted selection, and particularly relates to application of an SNP molecular marker related to the character of the number of live piglets born by pigs. The SNP molecular marker is a basic group of a 32663785th site of a ninth chromosome in a pig genome Sscrofa11.1. 109, the SNP site of the molecular marker has C / T polymorphism, and T is a favorable allelic variation of the character of the number of live piglets born by a pig. The dominant alleles of the SNP are preferably selected, the frequency of the dominant alleles can be increased generation by generation, the number of live piglets of pigs is increased, and the genetic improvement progress of the pigs is accelerated, so that the breeding and production benefits of the pigs are effectively improved.

The invention belongs to the technical field of plant molecular biology, and relates to application of VDAC1 / 3a allele in regulation of tomato cold resistance. According to the invention, the expression quantity of the SlVDAC1 / 3a gene in the VDAC1 / 3a allele is reduced by means of knockout or mutation and the like, so that the cold resistance of the tomato can be enhanced, the yield of the tomato and the content of soluble solids are not negatively influenced, and a theoretical basis and gene resources are provided for cultivating and screening cold-resistant tomato varieties.

The invention relates to the technical field of gene editing, and particularly provides a method for creating herbicide-resistant rice through gene editing of an OsEPSPS gene promoter region, and the method is characterized in that WT / 29bp single allelic deletion mutation is introduced into the OsEPSPS gene promoter region, i.e., A in an OsEPSPS gene initiation codon ATG is 0 site, A in the OsEPSPS gene initiation codon ATG is 0 site, A in the OsEPSPS gene initiation codon ATG is 0 site, and A in the OsEPSPS gene initiation codon ATG is 0 site; 29bp is deleted from the 112nd site to the 1150th site at the upstream of the initiation codon ATG on one allele, and the other allele is kept unchanged. By introducing the single allelic deletion mutation, the rice can obtain resistance to EPSPS inhibitor herbicides, the resistance is identified in T0-generation plants carrying the mutation and can be stably inherited to offspring plants, and the application value is high for guaranteeing agricultural production safety and improving the use efficiency of the herbicides.

The invention belongs to the technical field of animal breeding, and particularly relates to application of a detection reagent of an SNP (Single Nucleotide Polymorphism) molecular marker related to pork tenderness. An SNP site exists at the 232bp position from the 5'end of the sequence, the polymorphism is G / A, three genotypes of GG, GA and AA are shown, G allele is dominant allele, and the meat tenderness of a GG type individual is obviously higher than that of an AA type individual. The invention further develops a reagent for detecting the SNP molecular marker, the reagent can be used for pig assisted breeding, pig breeding or pork tenderness identification, and a method for identifying the pork tenderness is developed, which is beneficial to accelerating genetic breeding and early-stage seed selection of boars with high-quality meat traits.

Methods, systems, and software for estimating circulating tumor fraction are provided. A first plurality of nucleic acid sequences for a plurality of loci in genomic DNA from a solid tumor sample is obtained. A second plurality of nucleic acid sequences for a plurality of cell-free DNA fragments obtained from a liquid biopsy sample from the same subject is obtained. One or more somatic mutations is identified in the first plurality of nucleic acid sequences. A variant allele frequency (VAF) is determined for each somatic mutation based on a frequency of the respective somatic mutation in the liquid biopsy sample and a frequency of the corresponding wild type allele in the liquid biopsy sample, thereby determining a set of VAFs. An estimate of the circulating tumor fraction for the test subject is determined based on the set of VAFs for the one or more somatic mutations.

The invention relates to the technical field of biology, in particular to an SNP molecular marker for identifying upland cotton fiber quality, a KASP primer group and application of the SNP molecular marker and the KASP primer group. The invention provides five SNP (Single Nucleotide Polymorphism) molecular markers XW1-XW5 which are obviously related to fiber quality, and accurate and stable genotyping can be realized through verification. Wherein the fiber length can be remarkably increased by excellent allelotypes corresponding to the markers XW1, XW2, XW4 and XW5; the excellent allelotype corresponding to the marker XW3 can significantly improve the micronaire value, provides a reliable tool for upland cotton fiber quality identification and molecular breeding, and has important application value.

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload inhibits expression or activity of a DMPK allele comprising a disease-associated-repeat. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide or RNAi oligonucleotide.

The invention relates to the technical field of molecular markers and animal genetic breeding, in particular to an SNP marker influencing the content of porcine inosine and application of the SNP marker. The 10 SNP molecular markers closely related to the porcine inosine content are researched and determined on the basis of American-series purebred landrace, American-series purebred large white pigs and American-series purebred duroc, the dominant allele frequency can be increased generation by generation by optimizing the dominant allele of the SNP, the inosine content can be reduced, and the molecular markers can be used for identifying the porcine inosine content. The pig genetic improvement progress is accelerated, so that the economic benefit of breeding pig breeding is effectively improved.

The invention provides a valine production strain and a construction method and application thereof, a designed acetohydroxy acid synthase mutant is that the 88th basic group of an ilvB gene is changed from a to c, the 382nd basic group is changed from a to g, the 413th basic group is changed from c to t, the gene sequence of a designed artificial operon comprises a promoter, an ilvB (A138V) gene or ilvB (Q30K, S128G, A138V) gene of coding mutated acetohydroxy acid synthase, and an ilvN (G20D, I21D, I21D, I21D, I21D, I21D, I21D, I21D) gene. I22F) gene, a pyk gene for coding pyruvate kinase, and a terminator; by designing a specific acetohydroxyacid synthase mutant and related biological materials and artificial operon, the strain constructed by directional modification of the strain by using a pK18mobsacB system gene editing technology based on allele exchange has the advantages of good genetic stability, high fermentation yield and the like, and valine can be stably produced.

The invention discloses a related SNP (Single Nucleotide Polymorphism) molecular marker influencing the dead birth number of sows on a pig chromosome 1. An SNP site of the molecular marker corresponds to a 230578111 site Cgt on a chromosome 1 of a reference sequence of an international pig genome version 11.1; the polymorphism of the basic group at the site leads to the difference of the number of stillbirth birth of pigs. By verifying the influence effect of the molecular marker on the stillbirth number of the sow, an efficient and accurate molecular marker assisted breeding technology is finally established, and is applied to genetic improvement of reduction of the stillbirth number of boars, so that the reproductive performance of offspring pigs is improved, and the economic profit of enterprises is increased. Accordingly, a corresponding genetic improvement method is established, and by optimizing the dominant alleles of the SNP, the frequency of the dominant alleles can be increased generation by generation, the number of stillbirth of sows is reduced, and the progress of genetic improvement of pigs is accelerated, so that the economic benefit of breeding of the boars is effectively improved. Besides, a primer pair for amplifying a nucleotide sequence of the SNP molecular marker is further researched and designed, breeding traits can be rapidly and accurately bred through the primer pair, and the breeding process is accelerated.

Compositions, methods, kits, systems, and software are provided for non-invasive prenatal testing for autosomal recessive diseases. Next generation sequencing is used to sequence maternal and fetal DNA isolated from maternal plasma by probe capture. The fetal fraction of the sequencing reads for DNA isolated from maternal plasma is estimated by counting single nucleotide polymorphisms (SNPs) for which an allele is detected that is present in the paternal haplotype but absent in the maternal haplotype, based on the assumption that SNPs having a paternal allele belong to the fetal DNA. The fetal fraction is bioinformatically enriched by excluding sequencing reads over a specified length via in-silico size selection, which increases fetal genotype prediction accuracy. Parental haplotype information together with the read ratios observed at the linked SNPs is used to predict the fetal genotype at a site of a mutation linked to the autosomal recessive disease.

Using chemical genetic screening, we discovered a small molecule Cellulosin (aka endosidin20 or ES20) that causes cell swollen and inhibits plant growth, but does not disrupt global vesicle trafficking. By doing mutant screening, we obtained multiple alleles of Arabidopsis thaliana that are resistant to Cellulosin inhibition in growth. Those mutated amino acid residues are conserved across plant species. Cellulosin targets a group of cellulose synthases (CesAs) of Arabidopsis thaliana by binding to a conserved domain essential for the catalytic activity of CesA. Cellulosin may target and inhibit all subtypes of CesAs in plants. The present invention relates to Cellulosin, a cellulose synthase inhibitor, its analogs or derivatives as a broad-spectrum herbicide. The mutated genes, their protein products and a cell or a plant having those mutated genes or expressing those protein products are within the scope of this disclosure.

To improve allele discrimination, the inventors adapted the system combining Cas13a detection sensitivity with allele-specific PCR amplification to propose CASPER (Cas13a Allele-Specific PCR Enzyme Recognition) as a new versatile, easy-to-implement, and highly sensitive method to detect low-frequency of sequence variant. CASPER enabled specific and sensitive detection of KRASG12D with low DNA input such as DNA extracted from patient's pancreatic ultrasound-guided fine-needle aspiration fluids. CASPER is easy to implement and a versatile reliable method virtually adaptable to any point mutation.

The invention belongs to the field of molecular breeding, and particularly discloses a cotton fiber length gene GhCRK26 and a molecular marker and application thereof, the nucleotide sequence of the GhCRK26 in a tetraploid upland cotton line 9 is shown as SEQ ID NO: 7, and the amino acid sequence is shown as SEQ ID NO: 8; according to the invention, the SNP locus A0958778018, which is remarkably related to the fiber length, in the GHA09G0882 gene is identified through BSA-seq correlation analysis based on the fiber length of a sea-land backcross population; the SNP locus is located at the 1931bp position of a gene CDS region, and allele variation (C / T) of the SNP locus is closely associated with the fiber length character; a specific KASP-SNP molecular marker is developed on the basis of the key site and has the advantages of rapidness and high efficiency in detection; and a powerful technical support is provided for molecular breeding of cotton fiber length characters.

The invention belongs to the technical field of molecular markers, and particularly relates to an SNP (Single Nucleotide Polymorphism) molecular marker related to sheep weight traits and application thereof. The invention provides an SNP (Single Nucleotide Polymorphism) molecular marker related to sheep body weight traits, which corresponds to 35074122bp of the 11th chromosome of a sheep genome and has a basic group of C / T. The SNP molecular marker has remarkable correlation with the sheep weight, 6.11% of weight variance variation can be explained, and T is favorable allelic variation of sheep weight traits. The SNP molecular marker provided by the invention can be used for identifying sheep weight traits, distinguishing high-weight sheep from low-weight sheep, selecting a TT genotype for breed conservation during breeding, taking the TT genotype as a breeding sheep during breeding, excluding sheep with C allele during hybridization with other sheep, and performing artificial fertilization by adopting sperm of a TT genotype breeding ram. The breeding efficiency can be greatly improved, and sheep flock with weight advantages can be obtained.

The invention discloses an SNP molecular marker for increasing the milk yield of Holstein cattle and application of the SNP molecular marker, the SNP molecular marker is located at a mutation site of a Holstein cattle genome Leptin gene, the gene number of the Leptin gene in an NCBI database is NC037333.1, the SNP molecular marker is located at the 1761th basic group of a cDNA sequence of the Leptin gene, and the mutation basic group is A or G. When the basic group of the SNP molecular marker is A, the genotype is AA or AG, and the milk fat rate and the milk protein rate of Holstein cow milk production are high; when the basic group of the SNP molecular marker is G, the genotype is GG, the milk yield of Holstein cattle in 305 days is high, and the milk quality is not obviously reduced. The marker is applied to genetic improvement of dairy cows, and the frequency of dominant alleles can be improved generation by generation by selecting individuals carrying the dominant alleles, so that the lactation performance of the dairy cows is effectively improved, the breeding efficiency is optimized, and the competitive advantage in the field of dairy cow breeding is enhanced.

Plants, cells, tissues, and germplasms comprising genes and labeled alleles associated with increased soybean cyst nematode (SCN) resistance are provided. Also provided are methods of breeding plants having alleles associated with increased SCN resistance and methods of identifying and selecting plants having alleles associated with increased SCN resistance. Transgenes and genome-edited plants comprising gene alleles associated with increased SCN resistance are provided.

The invention belongs to the technical field of animal breeding, and particularly relates to application of a detection reagent of an SNP (Single Nucleotide Polymorphism) molecular marker related to pork quality traits. Basic groups at 208bp and 217bp from the 5'end of the sequence have synchronous C / T mutation, the sequence shows three genotypes of CC, CT or TT, T allele is dominant allele, and the intramuscular fat content of the TT type pig is greater than that of the CC type pig. The invention further develops a reagent for detecting the SNP molecular marker, the reagent can be used for pig assisted breeding, pig breeding, pork quality character identification or pork quality character screening, and a method for identifying the intramuscular fat content of pork and screening pork with rich intramuscular fat is developed.