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5 PRIME dicer1 rnase iiib domain mutations
Somatic chromosome 14 copy-number segments and allele fractions of variants heterozygous in matched normal. Data points are the tumor allele fractions of heterozygous, non-reference alleles in the matched normal sample. Somatic deletion of the non-reference allele results in tumor allele fractions near 0, whereas gain of the non-reference base or deletion of the reference base results in values approaching 1. Colored bars represent copy-number states inferred from fractional coverage values. Each panel depicts different combinations of copy-number alteration and loss-of-heterozygosity detected by whole exome sequencing. ( a ) Copy quiet : Compound germline loss-of-function (LOF) and somatic <t>RNase</t> <t>IIIb</t> missense mutation without further copy-number alteration (nine cases). ( b ) Wild-type deletion : Deletion of wild-type allele resulting in hemizygosity for the somatic RNase IIIb missense mutation (PPB_11). ( c ) Trisomy : Copy-number gain of chromosome 14 resulting in duplication of RNase IIIb mutant allele and retention of germline LOF allele (two cases). An additional case has duplication of the germline LOF allele and retention of the RNase IIIb mutant allele (PPB_5). ( d ) Chromosomal copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of entire chromosome 14 containing the somatic RNase IIIb missense mutation (PPB_15). ( e ) Arm-level copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of 14q containing the somatic RNase IIIb missense mutation (PPB_13).
Dicer1 Rnase Iiib Domain Mutations, supplied by 5 PRIME, used in various techniques. Bioz Stars score: 88/100, based on 9 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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1) Product Images from "Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences"

Article Title: Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences

Journal: Oncogene

doi: 10.1038/onc.2014.150

Somatic chromosome 14 copy-number segments and allele fractions of variants heterozygous in matched normal. Data points are the tumor allele fractions of heterozygous, non-reference alleles in the matched normal sample. Somatic deletion of the non-reference allele results in tumor allele fractions near 0, whereas gain of the non-reference base or deletion of the reference base results in values approaching 1. Colored bars represent copy-number states inferred from fractional coverage values. Each panel depicts different combinations of copy-number alteration and loss-of-heterozygosity detected by whole exome sequencing. ( a ) Copy quiet : Compound germline loss-of-function (LOF) and somatic RNase IIIb missense mutation without further copy-number alteration (nine cases). ( b ) Wild-type deletion : Deletion of wild-type allele resulting in hemizygosity for the somatic RNase IIIb missense mutation (PPB_11). ( c ) Trisomy : Copy-number gain of chromosome 14 resulting in duplication of RNase IIIb mutant allele and retention of germline LOF allele (two cases). An additional case has duplication of the germline LOF allele and retention of the RNase IIIb mutant allele (PPB_5). ( d ) Chromosomal copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of entire chromosome 14 containing the somatic RNase IIIb missense mutation (PPB_15). ( e ) Arm-level copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of 14q containing the somatic RNase IIIb missense mutation (PPB_13).
Figure Legend Snippet: Somatic chromosome 14 copy-number segments and allele fractions of variants heterozygous in matched normal. Data points are the tumor allele fractions of heterozygous, non-reference alleles in the matched normal sample. Somatic deletion of the non-reference allele results in tumor allele fractions near 0, whereas gain of the non-reference base or deletion of the reference base results in values approaching 1. Colored bars represent copy-number states inferred from fractional coverage values. Each panel depicts different combinations of copy-number alteration and loss-of-heterozygosity detected by whole exome sequencing. ( a ) Copy quiet : Compound germline loss-of-function (LOF) and somatic RNase IIIb missense mutation without further copy-number alteration (nine cases). ( b ) Wild-type deletion : Deletion of wild-type allele resulting in hemizygosity for the somatic RNase IIIb missense mutation (PPB_11). ( c ) Trisomy : Copy-number gain of chromosome 14 resulting in duplication of RNase IIIb mutant allele and retention of germline LOF allele (two cases). An additional case has duplication of the germline LOF allele and retention of the RNase IIIb mutant allele (PPB_5). ( d ) Chromosomal copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of entire chromosome 14 containing the somatic RNase IIIb missense mutation (PPB_15). ( e ) Arm-level copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of 14q containing the somatic RNase IIIb missense mutation (PPB_13).

Techniques Used: Sequencing, Mutagenesis

Related Articles

Sequencing:

Article Title: Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences
Article Snippet: .. DICER1 RNase IIIb domain mutations lead to defective cleavage of 5p miRNAs from the pre-miRNA loop sequence Double-stranded precursor miRNAs (pre-miRNAs) are normally processed by DICER1 into three maturation products: two potentially functional units derived from either the 5-prime (5p) or 3-prime (3p) arm of the precursor (mature 5p and 3p miRNAs) and the hairpin loop. .. In vivo studies on mouse mesenchymal stem cells transfected with human DICER1 (hsDICER ) mutant constructs had shown that the RNase IIIa domain of DICER1 serves a role in the removal of pre-miRNA loop sequences from the 3p mature miRNA.

Functional Assay:

Article Title: Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences
Article Snippet: .. DICER1 RNase IIIb domain mutations lead to defective cleavage of 5p miRNAs from the pre-miRNA loop sequence Double-stranded precursor miRNAs (pre-miRNAs) are normally processed by DICER1 into three maturation products: two potentially functional units derived from either the 5-prime (5p) or 3-prime (3p) arm of the precursor (mature 5p and 3p miRNAs) and the hairpin loop. .. In vivo studies on mouse mesenchymal stem cells transfected with human DICER1 (hsDICER ) mutant constructs had shown that the RNase IIIa domain of DICER1 serves a role in the removal of pre-miRNA loop sequences from the 3p mature miRNA.

Derivative Assay:

Article Title: Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences
Article Snippet: .. DICER1 RNase IIIb domain mutations lead to defective cleavage of 5p miRNAs from the pre-miRNA loop sequence Double-stranded precursor miRNAs (pre-miRNAs) are normally processed by DICER1 into three maturation products: two potentially functional units derived from either the 5-prime (5p) or 3-prime (3p) arm of the precursor (mature 5p and 3p miRNAs) and the hairpin loop. .. In vivo studies on mouse mesenchymal stem cells transfected with human DICER1 (hsDICER ) mutant constructs had shown that the RNase IIIa domain of DICER1 serves a role in the removal of pre-miRNA loop sequences from the 3p mature miRNA.

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    5 PRIME dicer1 rnase iiib domain mutations
    Somatic chromosome 14 copy-number segments and allele fractions of variants heterozygous in matched normal. Data points are the tumor allele fractions of heterozygous, non-reference alleles in the matched normal sample. Somatic deletion of the non-reference allele results in tumor allele fractions near 0, whereas gain of the non-reference base or deletion of the reference base results in values approaching 1. Colored bars represent copy-number states inferred from fractional coverage values. Each panel depicts different combinations of copy-number alteration and loss-of-heterozygosity detected by whole exome sequencing. ( a ) Copy quiet : Compound germline loss-of-function (LOF) and somatic <t>RNase</t> <t>IIIb</t> missense mutation without further copy-number alteration (nine cases). ( b ) Wild-type deletion : Deletion of wild-type allele resulting in hemizygosity for the somatic RNase IIIb missense mutation (PPB_11). ( c ) Trisomy : Copy-number gain of chromosome 14 resulting in duplication of RNase IIIb mutant allele and retention of germline LOF allele (two cases). An additional case has duplication of the germline LOF allele and retention of the RNase IIIb mutant allele (PPB_5). ( d ) Chromosomal copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of entire chromosome 14 containing the somatic RNase IIIb missense mutation (PPB_15). ( e ) Arm-level copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of 14q containing the somatic RNase IIIb missense mutation (PPB_13).
    Dicer1 Rnase Iiib Domain Mutations, supplied by 5 PRIME, used in various techniques. Bioz Stars score: 88/100, based on 9 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/dicer1 rnase iiib domain mutations/product/5 PRIME
    Average 88 stars, based on 9 article reviews
    Price from $9.99 to $1999.99
    dicer1 rnase iiib domain mutations - by Bioz Stars, 2020-08
    88/100 stars
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    Somatic chromosome 14 copy-number segments and allele fractions of variants heterozygous in matched normal. Data points are the tumor allele fractions of heterozygous, non-reference alleles in the matched normal sample. Somatic deletion of the non-reference allele results in tumor allele fractions near 0, whereas gain of the non-reference base or deletion of the reference base results in values approaching 1. Colored bars represent copy-number states inferred from fractional coverage values. Each panel depicts different combinations of copy-number alteration and loss-of-heterozygosity detected by whole exome sequencing. ( a ) Copy quiet : Compound germline loss-of-function (LOF) and somatic RNase IIIb missense mutation without further copy-number alteration (nine cases). ( b ) Wild-type deletion : Deletion of wild-type allele resulting in hemizygosity for the somatic RNase IIIb missense mutation (PPB_11). ( c ) Trisomy : Copy-number gain of chromosome 14 resulting in duplication of RNase IIIb mutant allele and retention of germline LOF allele (two cases). An additional case has duplication of the germline LOF allele and retention of the RNase IIIb mutant allele (PPB_5). ( d ) Chromosomal copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of entire chromosome 14 containing the somatic RNase IIIb missense mutation (PPB_15). ( e ) Arm-level copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of 14q containing the somatic RNase IIIb missense mutation (PPB_13).

    Journal: Oncogene

    Article Title: Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences

    doi: 10.1038/onc.2014.150

    Figure Lengend Snippet: Somatic chromosome 14 copy-number segments and allele fractions of variants heterozygous in matched normal. Data points are the tumor allele fractions of heterozygous, non-reference alleles in the matched normal sample. Somatic deletion of the non-reference allele results in tumor allele fractions near 0, whereas gain of the non-reference base or deletion of the reference base results in values approaching 1. Colored bars represent copy-number states inferred from fractional coverage values. Each panel depicts different combinations of copy-number alteration and loss-of-heterozygosity detected by whole exome sequencing. ( a ) Copy quiet : Compound germline loss-of-function (LOF) and somatic RNase IIIb missense mutation without further copy-number alteration (nine cases). ( b ) Wild-type deletion : Deletion of wild-type allele resulting in hemizygosity for the somatic RNase IIIb missense mutation (PPB_11). ( c ) Trisomy : Copy-number gain of chromosome 14 resulting in duplication of RNase IIIb mutant allele and retention of germline LOF allele (two cases). An additional case has duplication of the germline LOF allele and retention of the RNase IIIb mutant allele (PPB_5). ( d ) Chromosomal copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of entire chromosome 14 containing the somatic RNase IIIb missense mutation (PPB_15). ( e ) Arm-level copy neutral loss-of-heterozygosity : Copy-neutral loss of wild-type allele and duplication of 14q containing the somatic RNase IIIb missense mutation (PPB_13).

    Article Snippet: DICER1 RNase IIIb domain mutations lead to defective cleavage of 5p miRNAs from the pre-miRNA loop sequence Double-stranded precursor miRNAs (pre-miRNAs) are normally processed by DICER1 into three maturation products: two potentially functional units derived from either the 5-prime (5p) or 3-prime (3p) arm of the precursor (mature 5p and 3p miRNAs) and the hairpin loop.

    Techniques: Sequencing, Mutagenesis