Molecular analysis of yeast chromosome II betweenCMD1 andLYS2: The excision repair geneRAD16 located in this region belongs to a novel group of double-finger proteins

Yeast ◽  
1992 ◽  
Vol 8 (5) ◽  
pp. 397-408 ◽  
Author(s):  
Gertrud Mannhaupt ◽  
Rolf Stucka ◽  
Susanne Ehnle ◽  
Irene Vetter ◽  
Horst Feldmann
Keyword(s):  
Molecular Analysis ◽  
Excision Repair ◽  
Yeast Chromosome ◽  
Chromosome Ii

II. Yeast sequencing reports. Analysis of a 70kb region on the right arm of yeast chromosome II

Yeast ◽  
1994 ◽  
Vol 10 (10) ◽  
pp. 1363-1381 ◽  
Author(s):  
Gertrud Mannhaupt ◽  
Rolf Stucka ◽  
Susanne Ehnle ◽  
Irene Vetter ◽  
Horst Feldmann
Keyword(s):  
Yeast Chromosome ◽  
The Right ◽  
Chromosome Ii

Sequencing and functional analysis of a 32 560 bp segment on the left arm of yeast chromosome II. Identification of 26 open reading frames, including theKIP1 andSEC17 genes

Yeast ◽  
1993 ◽  
Vol 9 (12) ◽  
pp. 1355-1371 ◽  
Author(s):  
Bart Scherens ◽  
Mohamed El Bakkoury ◽  
Fabienne Vierendeels ◽  
Evelyne Dubois ◽  
Francine Messenguy
Keyword(s):  
Functional Analysis ◽  
Open Reading Frames ◽  
Yeast Chromosome ◽  
Chromosome Ii ◽  
Reading Frames

scholarly journals Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals

2020 ◽  
Vol 11 ◽  
Author(s):  
Katarína Fabišíková ◽  
Olívia Hamidová ◽  
Regína Lohajová Behulová ◽  
Katarína Závodná ◽  
Petra Priščáková ◽  
...  
Keyword(s):  
Family History ◽  
Molecular Analysis ◽  
Excision Repair ◽  
Dna Lesions ◽  
Pathogenic Variant ◽  
Sequencing Analysis ◽  
Biallelic Mutation ◽  
Pathogenic Variants ◽  
Mutyh Gene ◽  
History Of

MUTYH-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the MUTYH gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA lesions formed by reactive oxygen species (ROS). We report two cases of MAP. In case 1, a 67-year-old woman who presented with a personal history of colorectal and endometrial cancer and a family history of cancer syndromes underwent multigene panel testing that revealed a germline homozygous (biallelic) pathogenic variant c.1187G > A (p.Gly396Asp) in the MUTYH gene. Subsequent sequencing analysis performed in the offspring of the proband identified all three asymptomatic offspring as carriers of this pathogenic variant. In case 2, a 40-year-old woman with a strong family history of colorectal cancer [the proband’s sister was a carrier of the pathogenic variant c.536A > G (p.Tyr179Cys) of the MUTYH gene] and renal cancer underwent sequencing analysis of the MUTYH gene. The pathogenic heterozygous (monoallelic) variant c.536A > G (p.Tyr179Cys) of the MUTYH gene was identified in the proband. We found another pathogenic variant of the MUTYH gene—heterozygous (monoallelic) mutation c.1187G > A (p.Gly396Asp) in the genome of the proband’s husband. Molecular analysis of their offspring revealed that they are compound heterozygotes for MUTYH pathogenic variants c.536A > G (p.Tyr179Cys)/c.1187G > A (p.Gly396Asp). This paper shows the importance of genetic testing of asymptomatic relatives of the proband to ensure an early surveillance and management of individuals positive for pathogenic variant (s) in the MUTYH gene.

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