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Predecessor

The Japanese Journal of Genetics

Genes & Genetic Systems Vol. 91(2016) No. 6

GGS

Cover

Released: May 13, 2017

PCover-

Full Text PDF[671K]

Released: May 13, 2017

PToc-

Full Text PDF[410K]

Author Index

Released: May 13, 2017

PIndex-

Full Text PDF[399K]

Full papers

Characterization of a heat-activated retrotransposon in natural accessions of Arabidopsis thaliana

Seiji Masuda, Kosuke Nozawa, Wataru Matsunaga, Yukari Masuta, Akira Kawabe, Atsushi Kato, Hidetaka Ito

Released: May 13, 2017

[Advance Publication] Released: December 14, 2016

P293-299

Natural accessions are used for studying intraspecies genetic variation in the model plant Arabidopsis thaliana in order to address fundamental questions of evolution. Transposable elements are responsible for a wide range of mutations and play significant roles in shaping a genome over evolutionary time. In the present study, we aimed to characterize ONSEN, a heat-activated long terminal repeat (LTR) retrotransposon, in natural A. thaliana accessions. Southern blot analysis demonstrated that ONSEN was present in all the studied accessions, but the copy number was diverse. Olympia-1 contained a single ONSEN copy, located in the centromere of Chromosome 3. A premature stop codon in Olympia-1 ONSEN presumably abolishes integrase activity, which in turn presumably renders the retrotransposon non-functional. Hybridization of Col-0 with Olympia-1 showed that several ONSEN copies in Col-0 were activated by heat stress and maintained their transpositional activity in the progeny.

The role of single-nucleotide variants of the energy metabolism-linked genes SIRT3, PPARGC1A and APOE in amyotrophic lateral sclerosis risk

Diego Albani, Elisabetta Pupillo, Elisa Bianchi, Armando Chierchia, Rosalba Martines, Gianluigi Forloni, Ettore Beghi

Released: May 13, 2017

[Advance Publication] Released: February 24, 2017

P301-309

Amyotrophic lateral sclerosis (ALS) is a multifactorial disease, possibly with contributions from genetics and lifestyle. We examined variants in genes relevant to energy metabolism and physical activity in a case-control association study, with the aim of assessing genetics and physical activity as contributors to ALS risk. A well-characterized sample of Italian ALS patients (101) and controls (101) from the EURALS Consortium underwent a questionnaire interview on demographic, physical and other lifestyle habits, and venipuncture for DNA extraction. The genes selected were sirtuin 3 (SIRT3), peroxisome proliferator-activated receptor-γ coactivator-1α (PPARGC1A) and apolipoprotein E (APOE). Genetic studies suggested, for the first time, a protective role of the SIRT3 single-nucleotide polymorphism rs4980329 in ALS risk, and a contribution of the APOE-ε2 allele, which was more frequent in ALS patients than in controls. A joint analysis coupling genetic data and sporting activity revealed opposite roles of APOE-ε2 and SIRT3 rs3825075, the former being more frequent in physically active ALS patients and the latter more frequent in physically inactive patients. These findings suggest a contribution to ALS risk of genetic and environmental factors involved in energy metabolism, and stress the importance of a multifactorial analysis for evaluating this risk.

Short communication

Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran

Faeghe Aghajani, Mohammad Reza Mahdavi, Mehrnoush Kosaryan, Mehrad Mahdavi, Mohaddase Hamidi, Hossein Jalali

Released: May 13, 2017

[Advance Publication] Released: December 21, 2016

P311-313

Carrier frequency of the β^S allele has been reported to be 0.19% in Mazandaran province, northern Iran. Haplotype analysis of the β^S allele helps trace the origin of its encoded hemoglobin (Hb) variant, Hb S, in a region. The aim of this study was to investigate the haplotypes associated with β^S alleles in Mazandaran province. Capillary electrophoresis was carried out to detect individuals suspected to have a β^S allele(s). DNA analysis (PCR-RFLP) was used for final confirmation. To identify 5′ to 3′ β-globin gene cluster haplotypes associated with β^S alleles, family linkage analysis was applied. Six polymorphic sites (HincII 5′ to ε, XmnI 5′ to ^Gγ, HindIII in ^Gγ, HindIII in ^Aγ, HincII 3′ to ψβ and AvaII in β) were investigated using the PCR-RFLP method. Five different haplotypes were linked to β^S alleles, while β^A alleles were associated with nine haplotypes. Among the β^S alleles, 53.9% were associated with the Benin (----++) haplotype, and the Arab-Indian (+++-++) haplotype had the second-highest frequency (23%). Unlike southern provinces, where the Arab-Indian haplotype is prominent, the Benin haplotype is the most frequent haplotype in northern Iran, and this may represent a founder effect. Since the Benin haplotype does not carry the XmnI polymorphism 5′ to the ^Gγ gene, which is responsible for high expression of Hb F, a severe form of sickle cell disease can be anticipated in patients that are homozygous for the β^S allele in the northern region.

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Volume And Issue List
Genes & Genetic Systems

Predecessor

Genes & Genetic Systems Vol. 91(2016) No. 6

GGS

Cover

Table of Contents

Author Index

Full papers

Characterization of a heat-activated retrotransposon in natural accessions of Arabidopsis thaliana

The role of single-nucleotide variants of the energy metabolism-linked genes SIRT3, PPARGC1A and APOE in amyotrophic lateral sclerosis risk

Short communication

Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran

System Maintenance

Announcement From J-STAGE

Journal Tools

Share this Title

Volume And Issue List Genes & Genetic Systems

Predecessor

Genes & Genetic Systems Vol. 91(2016) No. 6

GGS

Cover

Table of Contents

Author Index

Full papers

Characterization of a heat-activated retrotransposon in natural accessions of Arabidopsis thaliana

The role of single-nucleotide variants of the energy metabolism-linked genes SIRT3, PPARGC1A and APOE in amyotrophic lateral sclerosis risk

Short communication

Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran

System Maintenance

Announcement From J-STAGE

Journal Tools

Share this Title

Volume And Issue List
Genes & Genetic Systems