CA2619841A1 - Methods for identifying merle mutations in the silv gene - Google Patents

Methods for identifying merle mutations in the silv gene Download PDF

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Publication number
CA2619841A1
CA2619841A1 CA002619841A CA2619841A CA2619841A1 CA 2619841 A1 CA2619841 A1 CA 2619841A1 CA 002619841 A CA002619841 A CA 002619841A CA 2619841 A CA2619841 A CA 2619841A CA 2619841 A1 CA2619841 A1 CA 2619841A1
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Canada
Prior art keywords
gene
human
merle
dog
seq
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Granted
Application number
CA002619841A
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French (fr)
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CA2619841C (en
Inventor
Keith E. Murphy
Leigh Anne Clark
Jacquelyn Wahl
Christine Rees
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Merlogen LLC
Original Assignee
Merlogen, Llc
Keith E. Murphy
Leigh Anne Clark
Jacquelyn Wahl
Christine Rees
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Application filed by Merlogen, Llc, Keith E. Murphy, Leigh Anne Clark, Jacquelyn Wahl, Christine Rees filed Critical Merlogen, Llc
Publication of CA2619841A1 publication Critical patent/CA2619841A1/en
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Publication of CA2619841C publication Critical patent/CA2619841C/en
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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/124Animal traits, i.e. production traits, including athletic performance or the like
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/16Primer sets for multiplex assays

Abstract

Animals with mutations in SILV present with the merle coat color pattern phenotype. Methods for the identification of animals that harbor a mutation in the SILV gene are described. Mutations in the SILV gene can be identified from any biological sample such as a cell or tissue that contains genomic DNA. A
microsatellite marker identified using linkage disequilibrium mapping that segregates with merle is also described.

Claims (15)

1. A method for identifying individuals having mutations in the SILV gene comprising:
a) obtaining a biological sample from a dog or human; and b) analyzing the biological sample for mutations within the SILV
gene or human equivalent.
2. The method of claim 1 wherein the organism has a merle allele.
3. The method of claim 2 wherein the merle allele is SEQ ID
NO: 25 or a sequence hybridizing thereto under stringent conditions.
4. The method of claim 1 wherein the dog has a cryptic merle allele.
5. The method of claim 4 wherein the cryptic merle allele is SEQ ID NO: 34, 35 or 36 or a sequence hybridizing thereto under stringent conditions.
6. The method of claim 1 wherein the biological sample is cell or tissue containing genomic DNA obtained from a dog.
7. The method of claim 1 wherein the biological sample is analyzed by performing PCR using genomic DNA templates and polyacrylamide gel electrophoresis.
8. The method of claim 1 for screening a human for defects in the analogous human gene.
9. The method of claim 8 wherein the human has or is at risk of producing children with auditory or visual defects.
10. A method to identify a gene causing auditory or visual defects in a human comprising obtaining samples from WS 2 affected patients and normal individuals, and sequencing the DNA to identify any nonsense, missense, insertion, deletion, or splicing mutations in the samples in a region analogous to the SILV gene which are present in the WS 2 affected patients but not the normal individuals.
11. SEQ ID NO: 25 or a sequence hybridizing thereto under stringent conditions.
12. SEQ ID NO: 34, 35 or 36 or a sequence hybridizing thereto under stringent conditions.
13. A kit for screening a dog or human for the presence of the merle gene or analogous defects in a human gene comprising SEQ ID NO:
25 or a sequence hybridizing thereto under stringent conditions and reagents for determining the presence of the merle gene or analogous human gene in a sample obtained from the human or dog.
14. A kit for screening a dog or human for the presence of the merle gene or analogous defects in a human gene comprising SEQ ID NO:
25 or a sequence hybridizing thereto under stringent conditions and reagents for determining the presence of the merle gene or analogous human gene in a sample obtained from the dog or human.
15. A kit for screening a dog or human for the presence of the cryptic merle gene or analogous defects in a human gene comprising SEQ ID
NO: 34, 35 or 36 or a sequence hybridizing thereto under stringent conditions and reagents for determining the presence of the cryptic merle gene in a sample obtained from the dog or human.
CA2619841A 2005-08-16 2006-08-16 Methods for identifying merle mutations in the silv gene Active CA2619841C (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US70858905P 2005-08-16 2005-08-16
US60/708,589 2005-08-16
PCT/US2006/032100 WO2007022335A1 (en) 2005-08-16 2006-08-16 Methods for identification of merle gene

Publications (2)

Publication Number Publication Date
CA2619841A1 true CA2619841A1 (en) 2007-02-22
CA2619841C CA2619841C (en) 2012-07-03

Family

ID=37501945

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2619841A Active CA2619841C (en) 2005-08-16 2006-08-16 Methods for identifying merle mutations in the silv gene

Country Status (8)

Country Link
US (1) US7807370B2 (en)
EP (1) EP1945803B1 (en)
JP (1) JP5203202B2 (en)
CN (1) CN101356285A (en)
AU (1) AU2006279420B2 (en)
CA (1) CA2619841C (en)
DE (1) DE06801706T1 (en)
WO (1) WO2007022335A1 (en)

Family Cites Families (23)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IL63907A0 (en) 1980-09-24 1981-12-31 Cetus Corp Diagnostic method and antibody probe for use therein
DE3381518D1 (en) 1982-01-22 1990-06-07 Cetus Corp METHOD FOR CHARACTERIZING HLA AND THE CDNS TEST AGENTS USED IN IT.
US4582788A (en) 1982-01-22 1986-04-15 Cetus Corporation HLA typing method and cDNA probes used therein
GB8311018D0 (en) 1983-04-22 1983-05-25 Amersham Int Plc Detecting mutations in dna
US4683194A (en) 1984-05-29 1987-07-28 Cetus Corporation Method for detection of polymorphic restriction sites and nucleic acid sequences
US4683202A (en) 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying nucleic acid sequences
CA1284931C (en) 1986-03-13 1991-06-18 Henry A. Erlich Process for detecting specific nucleotide variations and genetic polymorphisms present in nucleic acids
CA1338457C (en) 1986-08-22 1996-07-16 Henry A. Erlich Purified thermostable enzyme
US5202231A (en) 1987-04-01 1993-04-13 Drmanac Radoje T Method of sequencing of genomes by hybridization of oligonucleotide probes
GB8810400D0 (en) 1988-05-03 1988-06-08 Southern E Analysing polynucleotide sequences
US4988617A (en) 1988-03-25 1991-01-29 California Institute Of Technology Method of detecting a nucleotide change in nucleic acids
US5424186A (en) 1989-06-07 1995-06-13 Affymax Technologies N.V. Very large scale immobilized polymer synthesis
US5143854A (en) 1989-06-07 1992-09-01 Affymax Technologies N.V. Large scale photolithographic solid phase synthesis of polypeptides and receptor binding screening thereof
FR2650840B1 (en) 1989-08-11 1991-11-29 Bertin & Cie RAPID DETECTION AND / OR IDENTIFICATION OF A SINGLE BASED ON A NUCLEIC ACID SEQUENCE, AND ITS APPLICATIONS
ES2294777T3 (en) 1990-05-03 2008-04-01 Cornell Research Foundation, Inc. DNA AMPLIFICATION SYSTEM THROUGH THERMOSTABLE LIGASE FOR THE DETECTION OF GENETIC DISEASES.
EP0834576B1 (en) 1990-12-06 2002-01-16 Affymetrix, Inc. (a Delaware Corporation) Detection of nucleic acid sequences
US6004744A (en) 1991-03-05 1999-12-21 Molecular Tool, Inc. Method for determining nucleotide identity through extension of immobilized primer
RU1794088C (en) 1991-03-18 1993-02-07 Институт Молекулярной Биологии Ан@ Ссср Method of dna nucleotide sequence determination and a device for its realization
US5324633A (en) 1991-11-22 1994-06-28 Affymax Technologies N.V. Method and apparatus for measuring binding affinity
CA2130562A1 (en) 1992-02-19 1993-09-02 Alexander B. Chetverin Novel oligonucleotide arrays and their use for sorting, isolating, sequencing, and manipulating nucleic acids
US5795714A (en) 1992-11-06 1998-08-18 Trustees Of Boston University Method for replicating an array of nucleic acid probes
JP2004537292A (en) * 2001-05-25 2004-12-16 ディーエヌエープリント ジェノミクス インコーポレーティッド Compositions and methods for estimating body color traits
FR2857979B1 (en) 2003-07-25 2005-09-23 Agronomique Inst Nat Rech USE OF THE SILVER GENE FOR THE AUTHENTICATION OF THE RACIAL ORIGIN OF ANIMAL POPULATIONS AND THEIR DERIVED PRODUCTS

Also Published As

Publication number Publication date
AU2006279420B2 (en) 2010-12-16
WO2007022335A1 (en) 2007-02-22
DE06801706T1 (en) 2009-07-30
AU2006279420A1 (en) 2007-02-22
CA2619841C (en) 2012-07-03
JP5203202B2 (en) 2013-06-05
EP1945803A1 (en) 2008-07-23
EP1945803B1 (en) 2014-07-02
US7807370B2 (en) 2010-10-05
CN101356285A (en) 2009-01-28
JP2009504189A (en) 2009-02-05
US20080227102A1 (en) 2008-09-18

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