GB2546719B - Modulation of gene expression and screening for deregulated protein expression - Google Patents

Modulation of gene expression and screening for deregulated protein expression Download PDF

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Publication number
GB2546719B
GB2546719B GB1517937.7A GB201517937A GB2546719B GB 2546719 B GB2546719 B GB 2546719B GB 201517937 A GB201517937 A GB 201517937A GB 2546719 B GB2546719 B GB 2546719B
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Prior art keywords
screening
modulation
expression
gene expression
deregulated protein
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GB1517937.7A
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GB201517937D0 (en
GB2546719A (en
Inventor
Vorechovsky Igor
Kralovicova Jana
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University of Southampton
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University of Southampton
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
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Publication date
Application filed by University of Southampton filed Critical University of Southampton
Priority to GB1517937.7A priority Critical patent/GB2546719B/en
Priority to GB2103433.5A priority patent/GB2591194B/en
Publication of GB201517937D0 publication Critical patent/GB201517937D0/en
Priority to CA3000971A priority patent/CA3000971A1/en
Priority to AU2016334804A priority patent/AU2016334804B2/en
Priority to KR1020187012992A priority patent/KR102422625B1/en
Priority to KR1020227024328A priority patent/KR20220105174A/en
Priority to SG11201802870RA priority patent/SG11201802870RA/en
Priority to EP16781187.6A priority patent/EP3359685A1/en
Priority to JP2018518426A priority patent/JP6923517B2/en
Priority to PCT/GB2016/053136 priority patent/WO2017060731A1/en
Priority to US15/288,415 priority patent/US10196639B2/en
Priority to CN201680072628.XA priority patent/CN108603230A/en
Priority to IL308174A priority patent/IL308174A/en
Publication of GB2546719A publication Critical patent/GB2546719A/en
Priority to IL258528A priority patent/IL258528A/en
Priority to US16/213,535 priority patent/US10941405B2/en
Priority to US17/159,881 priority patent/US11702660B2/en
Application granted granted Critical
Publication of GB2546719B publication Critical patent/GB2546719B/en
Priority to JP2021123345A priority patent/JP2021180669A/en
Priority to AU2022204606A priority patent/AU2022204606A1/en
Priority to US18/299,509 priority patent/US20230416756A1/en
Priority to JP2023171631A priority patent/JP2024009853A/en
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic agents
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/11—Antisense
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/14—Type of nucleic acid interfering N.A.
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/31—Chemical structure of the backbone
    • C12N2310/315—Phosphorothioates
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/33—Chemical structure of the base
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/34—Allele or polymorphism specific uses
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
GB1517937.7A 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression Active GB2546719B (en)

Priority Applications (20)

Application Number Priority Date Filing Date Title
GB1517937.7A GB2546719B (en) 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression
GB2103433.5A GB2591194B (en) 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression
PCT/GB2016/053136 WO2017060731A1 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
IL308174A IL308174A (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
AU2016334804A AU2016334804B2 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
KR1020187012992A KR102422625B1 (en) 2015-10-09 2016-10-07 Regulation of gene expression and screening of deregulated protein expression
KR1020227024328A KR20220105174A (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
SG11201802870RA SG11201802870RA (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
EP16781187.6A EP3359685A1 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
JP2018518426A JP6923517B2 (en) 2015-10-09 2016-10-07 Screening for regulatory and deregulated protein expression of gene expression
CA3000971A CA3000971A1 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
US15/288,415 US10196639B2 (en) 2015-10-09 2016-10-07 Modulation of gene expression and screening for deregulated protein expression
CN201680072628.XA CN108603230A (en) 2015-10-09 2016-10-07 The screening of the adjusting of gene expression and protein expression imbalance
IL258528A IL258528A (en) 2015-10-09 2018-04-08 Modulation of gene expression and screening for deregulated protein expression
US16/213,535 US10941405B2 (en) 2015-10-09 2018-12-07 Modulation of gene expression and screening for deregulated protein expression
US17/159,881 US11702660B2 (en) 2015-10-09 2021-01-27 Modulation of gene expression and screening for deregulated protein expression
JP2021123345A JP2021180669A (en) 2015-10-09 2021-07-28 Adjustment of gene expression and screening of expression of dyscontrol protein
AU2022204606A AU2022204606A1 (en) 2015-10-09 2022-06-29 Modulation of gene expression and screening for deregulated protein expression
US18/299,509 US20230416756A1 (en) 2015-10-09 2023-04-12 Modulation of gene expression and screening for deregulated protein expression
JP2023171631A JP2024009853A (en) 2015-10-09 2023-10-02 Modulation of gene expression and screening for deregulated protein expression

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
GB1517937.7A GB2546719B (en) 2015-10-09 2015-10-09 Modulation of gene expression and screening for deregulated protein expression

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GB201517937D0 GB201517937D0 (en) 2015-11-25
GB2546719A GB2546719A (en) 2017-08-02
GB2546719B true GB2546719B (en) 2021-07-14

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Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
AU2015327836B2 (en) 2014-10-03 2021-07-01 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
GB2559100A (en) * 2016-08-31 2018-08-01 Univ Southampton Modulation of gene expression and screening for deregulated protein expression
WO2017060731A1 (en) 2015-10-09 2017-04-13 University Of Southampton Modulation of gene expression and screening for deregulated protein expression
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
EP3933041B1 (en) 2015-12-14 2024-01-31 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant retardation
SI3673080T1 (en) 2017-08-25 2024-03-29 Stoke Therapeutics, Inc. Antisense oligomers for treatment of conditions and diseases
JP2023525799A (en) 2020-05-11 2023-06-19 ストーク セラピューティクス，インク． OPA1 antisense oligomers for treatment of conditions and diseases

Citations (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997047772A2 (en) * 1996-06-13 1997-12-18 The Regents Of The University Of California Ataxia-telangiectasia: mutations in the atm gene
WO1998022621A1 (en) * 1996-11-20 1998-05-28 Virginia Mason Research Center Detection of mutations in the human atm gene
WO1998025125A2 (en) * 1996-12-03 1998-06-11 Swift Michael R Predisposition to breast cancer by mutations at the ataxia-telangiectasia genetic locus
WO2001007660A1 (en) * 1999-07-23 2001-02-01 The Regents Of The University Of California Methods for detection of ataxia telangiectasia mutations
US20090270270A1 (en) * 2008-04-28 2009-10-29 Centre Rene Huguenin Method for detecting intragenic large rearrangements
WO2009151698A1 (en) * 2008-03-14 2009-12-17 The Regents Of The University Of California Rapid assay for detecting ataxia-telangiectasia homozygotes and heterozygotes
WO2016055829A1 (en) * 2014-10-06 2016-04-14 Mehdipour Parvin Predisposing, preventive, predictive cancer marker kit (3pcm)

Patent Citations (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997047772A2 (en) * 1996-06-13 1997-12-18 The Regents Of The University Of California Ataxia-telangiectasia: mutations in the atm gene
WO1998022621A1 (en) * 1996-11-20 1998-05-28 Virginia Mason Research Center Detection of mutations in the human atm gene
WO1998025125A2 (en) * 1996-12-03 1998-06-11 Swift Michael R Predisposition to breast cancer by mutations at the ataxia-telangiectasia genetic locus
WO2001007660A1 (en) * 1999-07-23 2001-02-01 The Regents Of The University Of California Methods for detection of ataxia telangiectasia mutations
WO2009151698A1 (en) * 2008-03-14 2009-12-17 The Regents Of The University Of California Rapid assay for detecting ataxia-telangiectasia homozygotes and heterozygotes
US20090270270A1 (en) * 2008-04-28 2009-10-29 Centre Rene Huguenin Method for detecting intragenic large rearrangements
WO2016055829A1 (en) * 2014-10-06 2016-04-14 Mehdipour Parvin Predisposing, preventive, predictive cancer marker kit (3pcm)

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
LUNG CANCER, Vol 69, 2010, Y Lo et al, "ATM polymorphisms and risk of lung cancer among never smokers", pages 148 - 154, *
Nature Scientific Reports, Vol 6, 2016, J Kralovicova et al, "Exon-centric regulation of ATM expression is population ..." 18741 *
Proc Natl Acad Sci USA, Vol 104, 2007, L Du et al, "Correction or prototypic ATM splicing mutations and aberrant ATM ...", 6007-6012 *

Also Published As

Publication number Publication date
GB201517937D0 (en) 2015-11-25
GB202103433D0 (en) 2021-04-28
GB2591194B (en) 2021-10-13
GB2591194A (en) 2021-07-21
GB2546719A (en) 2017-08-02

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