43 results about "EDARADD" patented technology

The application belongs to the technical field of biology, and specifically discloses a truncated mutant of ANKRD11 and application thereof. The ANKRD11 gene mutant is any one of the following: a nucleic acid, wherein the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 1910 to No. 1913 are deleted; a polypeptide, wherein the polypeptide has a p.K637Tfs*15 mutation compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutant in screening of a KBG syndrome risk population. In the present disclosure, the pathogenic gene spectrum of the KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

Described herein are compounds that modulate splicing of a pre-mRNA, encoded by genes, and methods of treating diseases and conditions associated with gene expression or activity of proteins encoded by genes.

This invention belongs to the field of microbial genetic engineering technology, specifically relating to an α-2,6-sialic acid transferase mutant and its application. This invention utilizes a mutant derived from *Lithocarpus lucida* (…). Photobacterium Five amino acids in the amino acid sequence of α-2,6-sialyl transferase encoded by the gene of sp. JT-ISH-224 were mutated at specific sites to obtain α-2,6-sialyl transferase mutants M133L, E140D, D228H, N289D, and G322Q. Among them, the E140D and G322Q single-site mutants of α-2,6-sialyl transferase showed increases in 6'-SL yield of 87.80% and 78.01%, respectively, compared with wild-type α-2,6-sialyl transferase. The optimal recombinant microbial strain 6'-SL-7 (E140D / G322Q) obtained by combining the mutation sites achieved a yield of 1.471 g / L, effectively solving the bottleneck problem of low catalytic efficiency of sialyl transferase and providing a high-performance enzyme element for the efficient and low-cost biomanufacturing of 6'-SL.

The application belongs to the field of plant genetic engineering, and discloses a key gene for positively regulating salt stress and oxidation stress tolerance of rice OsHPCA1 . The gene (accession number: Os05g40770) encodes a receptor protein specifically sensing hydrogen peroxide, which is classified into the leucine repeat receptor-like kinase (LRR-RLKs) family, which is the largest subfamily in the receptor-like kinase (RLKs) family. OsHPCA1 In response to salt and oxidation stress signals, the rice salt and oxidation stress tolerance is positively regulated. OsHPCA1 The overexpression rice strain shows strong salt tolerance; and OsHPCA1 the knockout strain oshpca1 is more sensitive to salt stress. OsHPCA1 The leucine repeat receptor protein kinase OsHPCA1 encoded by the gene can positively regulate the activity of catalase C (CatC) in the rice body, enhance the H2O2 clearance efficiency under salt stress, and thus improve the salt tolerance of the rice. When OsHPCA1 overexpressed, the activity of CatC in the overexpression strain OsHPCA1 is significantly increased, the H2O2 clearance capacity is enhanced, and the salt tolerance and oxidation stress tolerance of the rice are improved.

The application discloses an immunoregulatory peptide BugaCATH and application thereof, and belongs to the field of biomedicine. Buga The CATH is a cyclic polypeptide with a pair of intramolecular disulfide bond composed of a sixth cysteine and a thirteenth cysteine, and has a molecular weight of 3156.67 Dalton and an isoelectric point of 8.76, wherein the amino acid sequence is shown as SEQ ID NO: 2. Buga The gene (GenBank accession: OQ870533) of the CATH precursor is composed of 663 nucleotide sequences, and the nucleotide sequence is shown as SEQ ID NO: 1; wherein the nucleotide at the positions of 322-448 is the immunoregulatory peptide Buga The encoding gene of the CATH. The immunoregulatory peptide Buga The application of the CATH in the preparation of a treatment drug for promoting skin wound repair.

The application discloses a Phyllostachys edulis-derived PeDHN2 gene and application of a coded protein thereof, and belongs to the technical field of plant biological breeding. A nucleotide sequence of the PeDHN2 gene is shown as SEQ ID NO. 11; and a sequence of the coded protein of the PeDHN2 gene is shown as SEQ ID NO. 12. The PeDHN2 gene is cloned from the Phyllostachys edulis, and experiments show that the gene is significantly up-regulated under salt stress, drought and abscisic acid (ABA) stress, and after being introduced into rice through a transgenic technology, the germination rate and root growth ability of the rice under salt stress are significantly improved. The application provides a key gene resource and technical support for molecular design breeding of salt-tolerant crops.

The application relates to the technical field of molecular markers, and discloses an SNP site associated with turbot albinism, a molecular marker and application, wherein the SNP mutation site is a base T / A mutation at the 50th bp of a coding region of a gene KIT proto-oncogene, receptor tyrosine kinase a (kita); the SNP mutation site is a base A / T mutation at the 137th bp of a coding region of a gene cytochrome P450 3A40-like (LOC118311907); the SNP mutation site is a base G / T mutation at the 371st bp of a coding region of a gene kit ligand a (kitlga); and the SNP mutation site is a base G / A mutation at the 581st bp of a coding region of a gene frizzled class receptor 10 (fzd10). The SNP site associated with turbot albinism, the molecular marker and the application provide a precise screening method for turbot breeding. In the breeding process, the SNP molecular markers are used to determine whether the genotype is albinism or normal, to establish an excellent family with normal body color, to reduce the incidence of abnormal body color, and to improve the overall quality and economic benefits of turbot culture.

This invention belongs to the field of biotechnology, specifically disclosing novel mutations of ANKRD11 and their applications. The ANKRD11 gene mutation can be any of the following: a nucleic acid having a target fragment, wherein the target fragment has a G repeat at position 4708 compared to the wild-type ANKRD11 gene with sequence SEQ ID NO.1; or a polypeptide having the p.E1570Gfs*71 mutation compared to the wild-type protein encoded by the ANKRD11 gene with sequence SEQ ID NO.2. The invention also relates to the application of reagents for detecting the aforementioned ANKRD11 gene mutation in screening individuals at risk for KBG syndrome. This disclosure broadens the pathogenic gene spectrum of KBG syndrome, enhances the understanding of the disease, provides experience for clinical screening and diagnosis of the disease, and also provides a basis for prenatal diagnosis.

Described herein are compounds that modulate splicing of a pre-mRNA, encoded by genes, and methods of treating diseases and conditions associated with gene expression or activity of proteins encoded by genes.

The invention relates to pegRNA for specifically targeting pig PKD2 gene encoding protein 658-site leucine, a pilot editing system and application, and belongs to the technical field of molecular biology and the technical field of gene editing. Wherein the pegRNA comprises an sgRNA Spacer, an RT (Reverse Transcription) template and PBS (Phosphate Buffer Solution); wherein the sequence of the sgRNA Spacer is as shown in SEQ ID NO. 6, the sequence of the RT template is as shown in SEQ ID NO. 7, and the sequence of the PBS is as shown in SEQ ID NO. 8. According to the system, leucine at the 658 site of a PKD2 gene encoding protein is mutated into tryptophan (c.1973 Tgt; G, p.L658W), so that ADPKD is induced, and technical support is provided for follow-up research on pathogenesis of the disease and drug screening of verified treatment targets.

The application belongs to the field of plant genetic engineering, and particularly relates to application of a receptor kinase OsCRK17 gene in regulating salt tolerance of rice. An OsCRK17 gene capable of regulating salt tolerance of rice is screened. The nucleotide sequence of the gene is shown as SEQ ID NO:1; the protein sequence encoded by the gene is shown as SEQ ID NO:2. By using Agrobacterium-mediated transformation, a pU1301-OsCRK17 overexpression strain and a CRISPR / Cas9-OsCRK17 gene editing strain are obtained. It is found by salt stress identification of the transgenic materials that the salt tolerance of the OsCRK17 gene overexpression strain is enhanced, indicating that OsCRK17 is a positive regulation factor for regulating salt tolerance of rice, plays a positive regulation role in response of rice to salt stress, and overexpression of the OsCRK17 gene can significantly improve the salt tolerance of rice.

Described herein are compounds that modulate splicing of a pre-mRNA, encoded by genes, and methods of treating diseases and conditions associated with gene expression or activity of proteins encoded by genes.

Described herein are compounds that modulate splicing of a pre-mRNA, encoded by genes, and methods of treating diseases and conditions associated with gene expression or activity of proteins encoded by genes.

The present application relates to the field of genetic engineering, in particular to a sgRNA group targeting DYA gene, a primer pair for amplifying target sequence, a plasmid group and application thereof. The sgRNA group designed by the present application edits the sheep DYA gene, and after gene editing, large fragment deletion occurs and causes frame shift mutation, which causes great damage to the protein structure and function encoded by the DYA gene. The experimental results show that different fragment lengths of gene editing can be caused in the target region, the overall editing efficiency of the first exon reaches 76.4%, and the overall editing efficiency of the second exon reaches 84.09%. Editing occurs on both sets of chromosomes in the genome (i.e. homozygote): the homozygote editing efficiency of the first exon is 30.9%, and the homozygote editing efficiency of the second exon is 9.1%. The sgRNA group provided by the present application has important significance in the study of ruminant evolution and related immune mechanisms.

This invention relates to mutants of the maize dwarfing gene ZmAN1, their identification primer pairs, kits, detection methods, and applications, belonging to the technical field of molecular genetics. The ZmAN1 mutants are obtained by single-base mutations in the ZmAN1 gene, with the gene number Zm00001d032961, and the mutants being an1-25, an1-65, an1-76, an1-75, an1-14, and an1-41. This invention also provides primer pairs for identifying ZmAN1 mutants and their applications. This invention, through EMS mutagenesis technology, creates and screens a series of different amino acid mutation sites distributed within the coding region of the ZmAN1 gene, significantly enriching the germplasm resource bank for maize dwarfing breeding, effectively compensating for the lack of allelic variation in this gene, and providing a foundation for the discovery of new high-quality dwarf materials.

This invention relates to the field of rice genetic engineering, specifically providing the application of the OsMT9 protein and its encoding gene in regulating rice salt tolerance. This invention designs a specific targeting... OsMT9 The sgRNA in the coding region of the gene (target sequences shown in SEQ ID NO.4 and SEQ ID NO.5) was extracted, and a gene editing vector was constructed. The gene was then transformed into rice Zhonghua 11 using Agrobacterium-mediated transformation, yielding... OsMT9 Mutants with loss of gene function, such as mutants 22-1 and 23-15. Salt stress experiments showed that the survival rate of these mutants (approximately 43%) was significantly higher than that of the wild type (approximately 6%). This invention provides new gene targets and valuable germplasm resources for salt-tolerant rice breeding, and is of great significance for the utilization of saline-alkali land.

The present invention relates to: a biomarker for predicting the prognosis of colorectal cancer by using changes in expression level of mRNA of a HSPD1 gene or a HSP60 protein encoded by these genes; and a prognosis prediction method using same. By analyzing the expression level of the HSPD1 gene or the HSP60 protein, the prognoses of colorectal cancer patients can be predicted in clinical practice, and when analysis is carried out in combination with TNM classification, more sophisticated prediction is possible and personalized strategies can be designed.

The application provides application of PWWP3B in preparation of a diagnostic product and a therapeutic drug for testicular premature failure or oligoasthenospermia, and finds that the occurrence of testicular premature failure or oligoasthenospermia is related to abnormal PWWP3B gene or abnormal expression level of a PWWP3B gene coding protein. Therefore, testicular premature failure or oligoasthenospermia can be definitely diagnosed by detecting the PWWP3B gene sequence or the PWWP3B protein expression level. Meanwhile, it is found that a mutation pathogenic gene related to testicular premature failure or oligoasthenospermia contains 7 mutation sites, and based on the above 7 mutation points, a corresponding AAV carrier is constructed for treatment, and the effectiveness of a gene therapy drug for a specific genetic mutation is confirmed.

Described herein are compounds that modulate splicing of a pre-mRNA, encoded by genes, and methods of treating diseases and conditions associated with gene expression or activity of proteins encoded by genes.

Described herein are compounds that modulate splicing of a pre-mRNA, encoded by genes, and methods of treating diseases and conditions associated with gene expression or activity of proteins encoded by genes.

The invention belongs to the technical field of proteomics, and relates to a method for improving proteomics identification sensitivity and application thereof, the method comprises the following steps: a) sample collection and sequencing: obtaining a biological sample with genetic diversity in a target species, and carrying out nucleic acid sequencing on the biological sample; b) constructing a polymorphic data identifying genetic variation information of a gene coding region in a biological sample, translating to generate a plurality of haplotype protein sequences containing the genetic variation information, integrating the plurality of haplotype protein sequences, and constructing a polymorphic database which is not a single sequence and contains population level proteins; and c) searching and analyzing the mass spectrum data: searching the proteome mass spectrum data of the sample to be detected by using a polymorphic database, and identifying the peptide fragment and the protein. By means of the sequence diversity covering the population level, a large number of peptide fragments and proteins which are omitted when a single reference sequence is used are identified, false negative results caused by sequence mismatching are reduced, and the identification accuracy is improved.

This invention provides a SNP site, identification kit, identification method, and application for the Jk(a+w) blood type, which triggers immune hemolytic transfusion reactions. The SNP site is the c.613C>T mutation at position 613, starting from the start codon of the SLC14A1 gene coding region. In the proband, the c.613C>T mutation was detected in one allele, while the other allele carried other known inactivating mutations. The allele carrying the c.613C>T mutation resulted in reduced expression of the Kidd protein in the proband's erythrocytes; the other allele, carrying other inactivating mutations, did not express the Kidd protein. The combined effect of these two mutated alleles resulted in the Jk(a+w) phenotype. This provides a genetic variation basis for the establishment of rare blood type banks and the assurance of transfusion compatibility.

Described herein are compounds that modulate splicing of a pre-mRNA, encoded by genes, and methods of treating diseases and conditions associated with gene expression or activity of proteins encoded by genes.

The invention relates to the technical field of gene expression regulation and control, and provides a precise protein expression regulation and control method based on a miniature translation inhibition element, which comprises the following specific steps: inserting any ATGN type four-base sequence: ATGa, ATGt and ATGg in the upstream of a target gene coding region; a specific four-base sequence (ATGN type) is inserted in the upstream of a target gene coding region (CDS), so that the inhibition effect of target protein expression can be realized, the gene has good universality in different species, and the blank of fine regulation and control on the translation level in the prior art is filled.

The application belongs to the technical field of genetic engineering, and discloses a rice heading stage gene EHD5, a coding protein and application thereof.The gene codes an RNA binding protein, and wild type gene sequence is shown as SEQ ID NO.1, and the amino acid sequence is shown as SEQ ID NO.3.Genetic transformation experiment proves that EHD5 promotes rice heading under long-day and short-day conditions.Because the ehd5 is later than the wild type in heading days under long-day and short-day conditions, and is relatively stable, therefore, it is of great significance to introduce the ehd5 into conventional varieties through hybridization or transgenic editing to resist the fluctuation of heading stage caused by environmental changes and expand regional adaptability.

Described herein are compounds that modulate splicing of a pre-mRNA, encoded by genes, and methods of treating diseases and conditions associated with gene expression or activity of proteins encoded by genes.

The application belongs to the technical field of biology, and specifically discloses a new mutation of ANKRD11 related to KBG syndrome and application thereof. The ANKRD11 gene mutation is any one of the following: a nucleic acid, the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 6281 to No. 6282 are deleted; a polypeptide, compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2, has a p.L2095Gfs*6 mutation. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutation in screening of a KBG syndrome risk population. In the disclosure, the pathogenic gene spectrum of KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

This invention relates to a method based on argB A method for constructing a high-arginine-producing genetically engineered strain using mutants, and the application of this genetically engineered strain in the microbial fermentation production of arginine. The genetically engineered strain was obtained by performing the following gene editing on its genome, starting with Corynebacterium glutamicum ATCC 13032; this invention first involves knocking out the gene encoding the arginine biosynthesis repressor protein. argR and last Relieve transcriptional repression; knock out the gene encoding glutamate kinase. proB Blocking the competitive pathway for the synthesis of the byproduct L-proline; knocking out global nitrogen metabolism regulators. amtR To relieve nitrogen metabolism restriction and enhance nitrogen source supply; to knock out the gene encoding the mechanosensitive channel protein. yggB By altering cell membrane permeability and reducing the leakage of byproducts (such as glutamate), it indirectly promotes arginine accumulation; based on the knockout of the original proB, ldh Replace with Ptac- argB *(T94S, I158V, R273K) strains were constructed to reduce lactic acid byproducts while resisting feedback inhibition; finally, the L-arginine exporter gene was overexpressed via plasmid. lysE By combining the above modification strategies, a genetically engineered strain ARG6-Ptac-, which produces high levels of arginine, was constructed. argB * / pXMJ19- lysE This engineered strain exhibits excellent L-arginine production capacity in both shake flask and fermenter scales (10.3 g / L in shake flask and 105.2 g / L in fed-batch fermentation), and its genetic traits are stable, making it suitable for industrial production.

Provided is a use of SDX in the preparation of a diagnostic product and therapeutic drug for testis premature senility or oligoasthenospermia. It has been found that the occurrence of testis premature senility or oligoasthenospermia is associated with an SDX gene abnormality or an abnormality in the expression level of a protein encoded by an SDX gene. Therefore, testis premature senility or oligoasthenospermia can be clearly diagnosed by detecting an SDX gene sequence or the expression level of the SDX protein. In addition, it has been found that a mutant pathogenic gene associated with testis premature senility or oligoasthenospermia contains seven mutation sites, and on the basis of the seven mutation sites above, a corresponding AAV vector is constructed for therapy, and the effectiveness of a gene therapy drug targeting a specific genetic mutation has been confirmed.

The invention relates to the technical field of goat molecular marker breeding, in particular to an SNP (Single Nucleotide Polymorphism) molecular marker for identifying or assisting in identifying the goat foot length and application of the SNP molecular marker. The SNP molecular marker provided by the invention is a nucleic acid molecule containing an SNP site and upstream and downstream sequences thereof, and the SNP site is located at the 1188bp position of an ARMC8 gene coding region and has T / C polymorphism; and the login number of the ARMC8 gene in an NCBI (National Center of Biotechnology Information) database is XM018049953.1. According to the present invention, the Leizhou goat is adopted as the experimental material, the ARMC8 gene is subjected to the sequencing analysis, the T-C mutation exists at the 1188 base of the ARMC8 gene coding region with the login number of XM018049953.1, the mutation is the synonymous mutation, the genotype of the site is related to the goat foot height character, the method can be used for identification or auxiliary identification of the goat foot length, and the important significance is provided for the goat variety breeding.