نتایج جستجو برای: heteroplasmy

تعداد نتایج: 700  

2014
Anitha D Jayaprakash Erica Benson Raymond Liang Jaehee Shim Luca Lambertini Mike Wigler Stuart A Aaronson Ravi Sachidanandam

Correspondence: [email protected] Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai , One Gustave L. Levy place, New York, 10029, USA Full list of author information is available at the end of the article Abstract Eukaryotic cells carry two genomes, nuclear (nDNA) and mitochondrial (mtDNA), which are ostensibly decoupled in their replication, segregation and inherita...

2013
Xue-Lian He Chang-Qing Ding Jian-Lin Han

The animal mitochondrial DNA (mtDNA) length polymorphism and heteroplasmy are accepted to be universal. Here we report the lack of structural variation but the presence of length polymorphism as well as heteroplasmy in mtDNA control region of an endangered avian species - the Crested Ibis (Nipponia nippon). The complete control region was directly sequenced while the distribution pattern and in...

2014
Anitha D Jayaprakash Erica Benson Raymond Liang Jaehee Shim Luca Lambertini Mike Wigler Stuart A Aaronson Ravi Sachidanandam

Correspondence: [email protected] Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai , One Gustave L. Levy place, New York, 10029, USA Full list of author information is available at the end of the article Abstract Eukaryotic cells carry two genomes, nuclear (nDNA) and mitochondrial (mtDNA), which are ostensibly decoupled in their replication, segregation and inherita...

2011
Saeid Morovvati Ziba Morovvati Reza Ranjbar

OBJECTIVE Mitochondrial DNA (mtDNA) is a useful tool for population studies, identification of humans and forensic DNA studies. The existence of several hundreds copies of mtDNA per cell permit its extraction from minute or degraded samples. In addition, the level of polymorphism in the hypervariable (HV) region is high enough to permit its use in human identity testing. However, the presence o...

2014
Xiuguang Mao Ji Dong Panyu Hua Guimei He Shuyi Zhang Stephen J. Rossiter

The utility and reliability of mitochondrial DNA sequences in phylogenetic and phylogeographic studies may be compromised by widespread and undetected nuclear mitochondrial copies (numts) as well as heteroplasmy within individuals. Both numts and heteroplasmy are likely to be common across diverse taxa yet few studies have characterised their frequencies and variation at the intra-specific leve...

2017
Josef Finsterer Sinda Zarrouk-Mahjoub

Letter to the Editor The interesting article by Sunde et al. about a 54 yo female with MELAS due to the m.3243ANG mutation with a blood heteroplasmyrate of 31% and manifesting with recurrent stroke-like episodes(SLEs), tonic-clonic seizures, migraine, hypothyroidism, short stature, fatigability, and hearing-loss [1] raises the following comments and concerns. For epilepsy the patient was initia...

Journal: :Genetics 2000
A Ludwig B May L Debus I Jenneckens

Data from 1238 fishes from 19 sturgeon species and 1 paddlefish were used to analyze heteroplasmy in sturgeon. Lengths of central repeat units ranged from 74 to 83 bp among sturgeon species. No repeat sequence was found in the paddlefish, Polyodon spathula. A general feature of the repeat units was the presence of termination associated sequence (TAS) motifs. About 50% of 138 interspecific muta...

Journal: :Human reproduction update 2006
E C Spikings J Alderson J C St John

Mitochondria are the organelles responsible for producing the majority of a cell's ATP and also play an essential role in gamete maturation and embryo development. ATP production within the mitochondria is dependent on proteins encoded by both the nuclear and the mitochondrial genomes, therefore co-ordination between the two genomes is vital for cell survival. To assist with this co-ordination,...

Journal: :Genetics 1998
C L Nesbø M O Arab K S Jakobsen

The nucleotide sequence of the control region and flanking tRNA genes of perch (Perca fluviatilis) mtDNA was determined. The organization of this region is similar to that of other vertebrates. A tandem array of 10-bp repeats, associated with length variation and heteroplasmy was observed in the 5' end. While the location of the array corresponds to that reported in other species, the length of...

2015
Masaki Kodaira Hideyuki Hatakeyama Shinsuke Yuasa Tomohisa Seki Toru Egashira Shugo Tohyama Yusuke Kuroda Atsushi Tanaka Shinichiro Okata Hisayuki Hashimoto Dai Kusumoto Akira Kunitomi Makoto Takei Shin Kashimura Tomoyuki Suzuki Gakuto Yozu Masaya Shimojima Chikaaki Motoda Nozomi Hayashiji Yuki Saito Yu-ichi Goto Keiichi Fukuda

Mitochondrial diseases are heterogeneous disorders, caused by mitochondrial dysfunction. Mitochondria are not regulated solely by nuclear genomic DNA but by mitochondrial DNA. It is difficult to develop effective therapies for mitochondrial disease because of the lack of mitochondrial disease models. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is...

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