subject:(mtDNA replication)

University of Gothenburg / Göteborgs Universitet

1. Posse, Viktor. Molecular insights into mitochondrial transcription and its role in DNA replication.

Degree: 2016, University of Gothenburg / Göteborgs Universitet

URL: http://hdl.handle.net/2077/50132

► The mitochondrion is an organelle of the eukaryotic cell responsible for the production of most of the cellular energy-carrying molecule adenosine triphosphate (ATP), through the… (more)

▼ The mitochondrion is an organelle of the eukaryotic cell responsible for the production of most of the cellular energy-carrying molecule adenosine triphosphate (ATP), through the process of oxidative phosphorylation. The mitochondrion contains its own genome, a small circular DNA molecule (mtDNA), encoding essential subunits of the oxidative phosphorylation system. Initiation of mitochondrial transcription involves three proteins, the mitochondrial RNA polymerase, POLRMT, and its two transcription factors, TFAM and TFB2M. Even though the process of transcription has been reconstituted in vitro, a full molecular understanding is still missing. Initiation of mitochondrial DNA replication is believed to be primed by transcription prematurely terminated at a sequence known as CSBII. The mechanisms of replication initiation have however not been fully defined. In this thesis we have studied transcription and replication of mtDNA. In the first part of this thesis we demonstrate that the transcription initiation machinery is recruited in discrete steps. Furthermore, we find that a large domain of POLRMT known as the N-terminal extension is dispensable for transcription initiation, and instead functions in suppressing initiation events from non-promoter DNA. Additionally we demonstrate that TFB2M is the last factor that is recruited to the initiation complex and that it induces melting of the mitochondrial promoters. In this thesis we also demonstrate that POLRMT is a non-processive polymerase that needs the presence of the elongation factor TEFM for processive transcription. TEFM increases the affinity of POLRMT for an elongation-like RNA-DNA template and decreases the probability of premature transcription termination. Our data also suggest that TEFM might be of importance for mitochondrial replication initiation, since it affects termination at CSBII. In the last part of this thesis we study the RNA-DNA hybrids (R-loops) that can be formed by the CSBII terminated transcript. We characterize these R-loops and demonstrate that they can be processed by RNaseH1 to form replicative primers that can be used by the mitochondrial replication machinery.

Subjects/Keywords: mitochondrion; mtDNA; transcription; DNA replication

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APA (6^th Edition):

Posse, V. (2016). Molecular insights into mitochondrial transcription and its role in DNA replication. (Thesis). University of Gothenburg / Göteborgs Universitet. Retrieved from http://hdl.handle.net/2077/50132

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Posse, Viktor. “Molecular insights into mitochondrial transcription and its role in DNA replication.” 2016. Thesis, University of Gothenburg / Göteborgs Universitet. Accessed January 22, 2021. http://hdl.handle.net/2077/50132.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Posse, Viktor. “Molecular insights into mitochondrial transcription and its role in DNA replication.” 2016. Web. 22 Jan 2021.

Vancouver:

Posse V. Molecular insights into mitochondrial transcription and its role in DNA replication. [Internet] [Thesis]. University of Gothenburg / Göteborgs Universitet; 2016. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/2077/50132.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Posse V. Molecular insights into mitochondrial transcription and its role in DNA replication. [Thesis]. University of Gothenburg / Göteborgs Universitet; 2016. Available from: http://hdl.handle.net/2077/50132

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Vanderbilt University

2. Song, Zhuo. Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data.

Degree: PhD, Human Genetics, 2012, Vanderbilt University

URL: http://hdl.handle.net/1803/10702

► The activity of polymerase ã (pol ã) is complicated. To understand how its kinetics values affect the final function of the pol ã, I created… (more)

Subjects/Keywords: tumor somatic mutations; targeted sequencing; NRTI; polymerase gamma; mtDNA replication

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Song, Z. (2012). Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10702

Chicago Manual of Style (16^th Edition):

Song, Zhuo. “Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data.” 2012. Doctoral Dissertation, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/10702.

MLA Handbook (7^th Edition):

Song, Zhuo. “Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data.” 2012. Web. 22 Jan 2021.

Vancouver:

Song Z. Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data. [Internet] [Doctoral dissertation]. Vanderbilt University; 2012. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/10702.

Council of Science Editors:

Song Z. Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data. [Doctoral Dissertation]. Vanderbilt University; 2012. Available from: http://hdl.handle.net/1803/10702

3. Jemt, Elisabeth. Initiation of Mammalian Mitochondrial DNA Replication.

Degree: 2014, University of Gothenburg / Göteborgs Universitet

URL: http://hdl.handle.net/2077/34846

► Mitochondria produce most of the adenosine triphosphate required in a eukaryotic cell and they contain their own genome. The mitochondrial DNA (mtDNA) is a double… (more)

▼ Mitochondria produce most of the adenosine triphosphate required in a eukaryotic cell and they contain their own genome. The mitochondrial DNA (mtDNA) is a double stranded circular molecule that codes for proteins required for cellular respiration and RNA molecules involved in translation of these proteins. Replication of the mtDNA is therefore essential for cell viability and the aim of this thesis has been to understand the molecular mechanisms of mtDNA replication. In general, initiation of DNA replication involves a series of steps including recognition of an origin of replication, loading of replicative helicases, and synthesis of an RNA primer that can be used by DNA polymerases to initiate DNA synthesis. We have studied this process in mammalian mitochondria and demonstrate that the mitochondrial RNA polymerase (POLRMT) synthesizes the RNA primer required for initiation of lagging strand replication at the origin of light strand (OL). We have reconstituted, and in detail characterized, OL-dependent initiation of lagging strand replication in vitro using purified POLRMT and core factors of the mitochondrial replisome. We have also addressed how the TWINKLE helicase is loaded during initiation of leading strand replication. TWINKLE is a ring-shaped helicase and must be opened up to accommodate DNA in its central channel. Many helicases require specialized loading factor to assemble onto DNA, but we find that TWINKLE can function without such a factor. In the presence of the other components of the mitochondrial replisome, we show that TWINKLE can assemble on a DNA template resembling the mtDNA in vivo and support primer dependent initiation of DNA synthesis. Most mtDNA replication initiation events are prematurely terminated and do not result in duplication of the entire mtDNA molecule. We address the mechanisms responsible for this termination event and identify a highly conserved sequence with palindromic character located immediately downstream of the premature mtDNA replication termination site. Interestingly, transcription initiated at the heavy strand promoter (HSP) is also terminated at this region, suggesting that the termination sequence functions in a bidirectional manner. Based on the results of in vitro biochemistry and cell culture experiments, we propose that a trans-acting factor binds to the palindromic sequence and simultaneously directs termination of both mtDNA transcription and replication. MTERF1 binds specifically to an mtDNA sequence just downstream of the ribosomal RNA transcription unit. The function of MTERF1 has been debated and to elucidate its functional role in vivo, we here characterize an Mterf1 knock-out mouse model. We find that MTERF1 is non-essential and that the protein acts to prevent the transcription machinery from interfering with the downstream light strand promoter (LSP), an incidence that may disturb expression of coding genes, but also the formation of primers required for initiation of mtDNA replication.

Subjects/Keywords: mitochondria; mtDNA; DNA replication

…for mtDNA replication. Mitochondrial function is thus dependent on two different genomes and… …involved in mtDNA replication. In my thesis work, I have investigated the molecular mechanisms of… …mtDNA replication, with a special focus on how this process is initiated. I hope my work has… …components of the mtDNA replication machinery, POLRMT, TWINKLE, and POLγA show significant sequence… …mitochondrial DNA replication 1.6 Mitochondrial DNA replication 1.6.1 Models of mtDNA replication The…

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APA (6^th Edition):

Jemt, E. (2014). Initiation of Mammalian Mitochondrial DNA Replication. (Thesis). University of Gothenburg / Göteborgs Universitet. Retrieved from http://hdl.handle.net/2077/34846

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Jemt, Elisabeth. “Initiation of Mammalian Mitochondrial DNA Replication.” 2014. Thesis, University of Gothenburg / Göteborgs Universitet. Accessed January 22, 2021. http://hdl.handle.net/2077/34846.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Jemt, Elisabeth. “Initiation of Mammalian Mitochondrial DNA Replication.” 2014. Web. 22 Jan 2021.

Vancouver:

Jemt E. Initiation of Mammalian Mitochondrial DNA Replication. [Internet] [Thesis]. University of Gothenburg / Göteborgs Universitet; 2014. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/2077/34846.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Jemt E. Initiation of Mammalian Mitochondrial DNA Replication. [Thesis]. University of Gothenburg / Göteborgs Universitet; 2014. Available from: http://hdl.handle.net/2077/34846

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Tampere University

4. Hyvärinen, Anne K. Functional Analysis of the MTERF Protein Family in Cultured Human Cells .

Degree: Lääketieteellisen teknologian instituutti - Institute of Medical Technology, 2010, Tampere University

URL: https://trepo.tuni.fi/handle/10024/66663

► Väitöskirjatyössä Functional analysis of the MTERF protein family in cultured human cells oli tavoitteena karakterisoida ihmisen MTERF-proteiiniperheen jäsenten tehtäviä mitokondrion DNA:n (mtDNA) metaboliassa viljellyissä ihmissoluissa… (more)

▼ Väitöskirjatyössä Functional analysis of the MTERF protein family in cultured human cells oli tavoitteena karakterisoida ihmisen MTERF-proteiiniperheen jäsenten tehtäviä mitokondrion DNA:n (mtDNA) metaboliassa viljellyissä ihmissoluissa molekyylibiologian keinoin. Väitöskirjatyön ensimmäisessä osassa tutkittiin MTERF:n (mitochondrial transcription termination factor) sitoutumista mtDNA:han ja sen mahdollista roolia mitokondrion genomin replikaatiossa. Toisessa osassa valotettiin MTERF-proteiinin tehtäviä mtDNA:n transkriptiossa. Työn kolmannessa osassa tutkittiin kahden varsin äsken löydetyn MTERF-proteiiniperheen jäsenen, MTERFD1:n ja MTERFD3:n, sitoutumista mtDNA:han ja niiden tehtäviä mtDNA:n ylläpidossa. Lisäksi väitöskirjan neljännessä osassa valotettiin TFAM:n roolia mtDNA:n metaboliassa. MTERF:n havaittiin sitoutuvan mtDNA:ssa useisiin kohtiin kanoonisen sitoutumiskohtansa lisäksi sekä in vitro että in vivo. Merkittävää oli myös havainto, että MTERF edistää mitokondriaalisen replikaation taukoamista sekä kanoonisessa että uusissa sitoutumiskohdissaan. TFAM:n voimistamat replikaation pysäytyskohdat olivat vertailtaessa varsin diffuuseja toisin kuin MTERF:n vastaavat. MTERF-proteiinitasojen muuntelu in vivo vaikutti vain lievästi mitokondriaaliseen transkriptioon. Tulokset implikoivat, että MTERF-proteiinin määrä ei säätele mitokondriaalisten transkriptien suhteellisia tasoja millään yksinkertaisella tavalla vaan että siihen liittyy kompensaatiomekanismeja. Siinä missä MTERF-proteiinin määrän muutoksella oli vain vähäinen vaikutus mitokondrion transkriptitasoihin, TFAM:n ylituotannolla oli puolestaan selkeä vaikutus. MTERFD1:n ja MTERFD3:n havaittiin olevan mitokondriaalisesti kohdennettuja proteiineja, mutta kummallekaan näistä proteiineista ei löydetty sekvenssispesifejä sitoutumiskohtia. MTERFD3:n ja hieman vähemmissä määrin MTERFD1:n ylituotannon havaittiin vähentävän mtDNA:n kopiolukumäärää ja estävän mtDNA:n replikaation loppuunsaattamista. Tulokset implikoivat, että myös näillä uusilla MTERF-proteiiniperheen jäsenillä on rooli mtDNA:n replikaatiossa.; Human mitochondrial DNA (mtDNA) is a double-stranded circular molecule of ~16 kb. In the major coding strand of human mtDNA there are two transcription units, one of which is dedicated to the synthesis of ribosomal RNAs and two transfer RNAs (the ´rRNA transcription unit´) and the other one to the synthesis of all messenger RNAs and the remaining transfer RNAs (the ´mRNA transcription unit´). The initiation sites for these two transcription units are located near each other and the transcription units partially overlap. They are independently controlled and differentially expressed. The central aim of the present project was to study the functional roles of human mitochondrial transcription termination factor (MTERF), the protein that is believed to control the relative activities of the two transcription units in the major coding strand of mtDNA. MTERF is a DNA-binding protein that interacts with mtDNA as a monomer. It binds to a 28 bp region within the…

Subjects/Keywords: mitokondrio ; mtDNA ; proteiini ; transkriptio ; replikaatio ; mitochondial ; mtDNA ; protein ; transcription ; replication

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Hyvärinen, A. K. (2010). Functional Analysis of the MTERF Protein Family in Cultured Human Cells . (Doctoral Dissertation). Tampere University. Retrieved from https://trepo.tuni.fi/handle/10024/66663

Chicago Manual of Style (16^th Edition):

Hyvärinen, Anne K. “Functional Analysis of the MTERF Protein Family in Cultured Human Cells .” 2010. Doctoral Dissertation, Tampere University. Accessed January 22, 2021. https://trepo.tuni.fi/handle/10024/66663.

MLA Handbook (7^th Edition):

Hyvärinen, Anne K. “Functional Analysis of the MTERF Protein Family in Cultured Human Cells .” 2010. Web. 22 Jan 2021.

Vancouver:

Hyvärinen AK. Functional Analysis of the MTERF Protein Family in Cultured Human Cells . [Internet] [Doctoral dissertation]. Tampere University; 2010. [cited 2021 Jan 22]. Available from: https://trepo.tuni.fi/handle/10024/66663.

Council of Science Editors:

Hyvärinen AK. Functional Analysis of the MTERF Protein Family in Cultured Human Cells . [Doctoral Dissertation]. Tampere University; 2010. Available from: https://trepo.tuni.fi/handle/10024/66663

5. Lee, Young-Sam. Structural and functional studies of the human mitochondrial DNA polymerase.

Degree: PhD, Cell and Molecular Biology, 2010, University of Texas – Austin

URL: http://hdl.handle.net/2152/ETD-UT-2010-08-1798

► The human mitochondrial DNA polymerase (Pol γ) catalyzes mitochondrial DNA synthesis, and thus is essential for the integrity of the organelle. Mutations of Pol γ… (more)

▼ The human mitochondrial DNA polymerase (Pol γ) catalyzes mitochondrial DNA synthesis, and thus is essential for the integrity of the organelle. Mutations of Pol γ have been implicated in more than 150 human diseases. Reduced Pol γ activity caused by inhibition of anti-HIV drugs targeted to HIV reverse transcriptase confers major drug toxicity. To illustrate the structural basis for mtDNA replication and facilitate rational design of antiviral drugs, I have determined the crystal structure of human Pol γ holoenzyme. The structure reveals heterotrimer architecture of Pol γ holoenzyme with a monomeric catalytic subunit Pol γA, and a dimeric processivity factor Pol γB. While the polymerase and exonuclease domains in Pol γA present high structural homology with the other members of the DNA Pol I family, the spacer between the two functional domains shows a unique fold, and constitutes the subunit interface. The structure suggests a novel mechanism for Pol γ’s high processivity of DNA replication. Furthermore, the structure reveals dissimilarity in the active sites between Pol γ and HIV RT, thereby indicating an exploitable space for design of less toxic anti-HIV drugs. Interestingly, the structure shows an asymmetric subunit interaction, that is, one monomer of dimeric Pol γB primarily participates in interactions with Pol γA. To understand the roles of each Pol γB monomer, I generated a monomeric human Pol γB variant by disrupting the dimeric interface of the subunit. Comparative studies of this variant and dimeric wild-type Pol γB reveal that each monomer in the dimeric Pol γB makes a distinct contribution to processivity: one monomer (proximal to Pol γA) increases DNA binding affinity whereas the other monomer (distal to Pol γA) enhances the rate of polymerization. The pol γ holoenzyme structure also gives a rationale to establish the genotypic-phenotypic relationship of many disease-implicated mutations, especially for those located outside of the conserved pol or exo domains. Using the structure as a guide, I characterized a substitution of Pol γA residue R232 that is located at the subunit interface but far from either active sites. Kinetic analyses reveal that the mutation has no effect on intrinsic Pol γA activity, but shows functional defects in the holoenzyme, including decreased polymerase activity and increased exonuclease activity, as well as reduced discrimination between mismatched and corrected base pair. Results provide a molecular rationale for the Pol γA-R232 substitution mediated mitochondrial diseases. Advisors/Committee Members: Yin, Yuhui Whitney (advisor), Molineux, Ian J. (committee member), Johnson, Kenneth A. (committee member), Paull, Tanya T. (committee member), Robertus, Jon D. (committee member).

Subjects/Keywords: Mitochondrial DNA polymerase; DNA replication; Mitochondrial disease; Drug toxicity; AIDS; mtDNA; Pol gamma holoenzyme

…transcriptase confers major drug toxicity. To illustrate the structural basis for mtDNA replication… …Replication of mtDNA is performed by several nuclear-encoded proteins that form mitochondrial… …mtDNA replication. Animal Pol γ consists of two subunits, a 140-kDa catalytic subunit, Pol γA… …fidelity in mtDNA replication by hydrolysis of misincorporated nucleotides during DNA synthesis… …factor for efficient mtDNA replication with Pol γA. The processivity mechanism by Pol γB is…

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APA (6^th Edition):

Lee, Y. (2010). Structural and functional studies of the human mitochondrial DNA polymerase. (Doctoral Dissertation). University of Texas – Austin. Retrieved from http://hdl.handle.net/2152/ETD-UT-2010-08-1798

Chicago Manual of Style (16^th Edition):

Lee, Young-Sam. “Structural and functional studies of the human mitochondrial DNA polymerase.” 2010. Doctoral Dissertation, University of Texas – Austin. Accessed January 22, 2021. http://hdl.handle.net/2152/ETD-UT-2010-08-1798.

MLA Handbook (7^th Edition):

Lee, Young-Sam. “Structural and functional studies of the human mitochondrial DNA polymerase.” 2010. Web. 22 Jan 2021.

Vancouver:

Lee Y. Structural and functional studies of the human mitochondrial DNA polymerase. [Internet] [Doctoral dissertation]. University of Texas – Austin; 2010. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/2152/ETD-UT-2010-08-1798.

Council of Science Editors:

Lee Y. Structural and functional studies of the human mitochondrial DNA polymerase. [Doctoral Dissertation]. University of Texas – Austin; 2010. Available from: http://hdl.handle.net/2152/ETD-UT-2010-08-1798

6. Βενέτης, Κωνσταντίνος. Η αντιστροφή ρόλων του μιτοχονδριακού DNA στη διπλή μονογονεϊκή κληρονομικότητα: διερεύνηση της κατανομής των μητρικής και πατρικής προέλευσης μιτοχονδριακών γονιδιωμάτων στους σωματικούς ιστούς και στους γαμέτες του Mytilus galloprovincialis.

Degree: 2007, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)

URL: http://hdl.handle.net/10442/hedi/20791

► Doubly Uniparental Inheritance (DUI) is the only known exception to the rule of maternal inheritance of mitochondrial DNA (mtDNA) in the metazoans. In Mytilus and… (more)

▼ Doubly Uniparental Inheritance (DUI) is the only known exception to the rule of maternal inheritance of mitochondrial DNA (mtDNA) in the metazoans. In Mytilus and in some other bivalves in other bivalves, two types of mtDNA have been detected. The first is called F (Female) and is passed by the mother to both sexes of the progeny. The second is called M (Male) and follows a different route: It passes through the germ line only from father to son. The result is that female offspring are homoplasmic (containing only the F type) and male offspring are heteroplasmic (containing the F type in their somatic tissues, but the M type in the gonad). Nevertheless, there are reports of the presence, although in small amounts, of the M type in male and female somatic tissues that seem to override that rule. Furthermore, it is believed that occasionally an F molecule can enter the germ line, replace the M and assume its role. This phenomenon, which is called “role reversal” or “masculinization” of the F molecule, plays a very important role in the understanding of DUI, as it explains the divergence of the two mitochondrial genomes in different species with DUI, without the need to accept that the phenomenon emerged many times independently. The above atypical presence of the genomes and especially the hypothesis of “masculinization” are studied here. The objective is to obtain a clearer picture of the distribution of the two genomes in species with DUI. The study has concentrated on the gametes, since the genomes are passed to the next generation through these cells. As a result, the stability of DUI is based on the mechanisms that ensure that the oocyte contains only the maternal genome and that the spermatozoon contains only the paternal genome. One of the most difficult problems that arise in the study of the distribution of the M type is the high possibility that the examined somatic cells are contaminated by the gonad, since in Mytilus the gonad does not form a distinct organ, but is spread in the mantle tissue. In order to avoid this, new techniques that include a rapid boiling step were developed. Purified samples under this procedure revealed a much more limited presence of the M type in the somatic tissues of adult males, than the one in the published reports. In situ hybridisation experiments confirmed that the limited presence which was detected was not an artifact caused by contamination, but is related to leakage of M in the somatic tissues. Shortly, this set of experiments revealed that: 1. The atypical presence of the M type in earlier reports has been overestimated, because these studies had not been taken any contaminationavoiding measures. 2. The mechanism that aggregates the paternal mitochondria to the cells that are going to form the male gonad is not very strict and thus occasionally allows the leakage of the M type into the somatic tissues. 3. It is absolutely necessary that we obtain purified samples when we are examining the distribution of M and F mtDNA in various tissues, otherwise the results will be…

Subjects/Keywords: Διπλή μονογονεϊκή κληρονομικότητα (ΔΜΚ); Αντιστροφή ρόλων; Μιτοχονδριακό DNA; Ολίσθηση κατά την αντιγραφή; Ανασυνδυασμός; Αρρενοποίηση; Doubly uniparental inheritance (DUI); Role reversal; Mitochondrial DNA; mtDNA replication slippage; Recombination; Masculinization; Mytilus galloprovinciallis; Bivalvia

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APA (6^th Edition):

Βενέτης, . �. (2007). Η αντιστροφή ρόλων του μιτοχονδριακού DNA στη διπλή μονογονεϊκή κληρονομικότητα: διερεύνηση της κατανομής των μητρικής και πατρικής προέλευσης μιτοχονδριακών γονιδιωμάτων στους σωματικούς ιστούς και στους γαμέτες του Mytilus galloprovincialis. (Thesis). National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Retrieved from http://hdl.handle.net/10442/hedi/20791

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Βενέτης, Κωνσταντίνος. “Η αντιστροφή ρόλων του μιτοχονδριακού DNA στη διπλή μονογονεϊκή κληρονομικότητα: διερεύνηση της κατανομής των μητρικής και πατρικής προέλευσης μιτοχονδριακών γονιδιωμάτων στους σωματικούς ιστούς και στους γαμέτες του Mytilus galloprovincialis.” 2007. Thesis, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Accessed January 22, 2021. http://hdl.handle.net/10442/hedi/20791.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Βενέτης, Κωνσταντίνος. “Η αντιστροφή ρόλων του μιτοχονδριακού DNA στη διπλή μονογονεϊκή κληρονομικότητα: διερεύνηση της κατανομής των μητρικής και πατρικής προέλευσης μιτοχονδριακών γονιδιωμάτων στους σωματικούς ιστούς και στους γαμέτες του Mytilus galloprovincialis.” 2007. Web. 22 Jan 2021.

Vancouver:

Βενέτης �. Η αντιστροφή ρόλων του μιτοχονδριακού DNA στη διπλή μονογονεϊκή κληρονομικότητα: διερεύνηση της κατανομής των μητρικής και πατρικής προέλευσης μιτοχονδριακών γονιδιωμάτων στους σωματικούς ιστούς και στους γαμέτες του Mytilus galloprovincialis. [Internet] [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2007. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10442/hedi/20791.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Βενέτης �. Η αντιστροφή ρόλων του μιτοχονδριακού DNA στη διπλή μονογονεϊκή κληρονομικότητα: διερεύνηση της κατανομής των μητρικής και πατρικής προέλευσης μιτοχονδριακών γονιδιωμάτων στους σωματικούς ιστούς και στους γαμέτες του Mytilus galloprovincialis. [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2007. Available from: http://hdl.handle.net/10442/hedi/20791

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

7. Μίζη, Αθανασία. Το φαινόμενο της διπλής μονογονεϊκής κληρονομικότητας του μιτοχονδριακού DNA: μοριακή ανάλυση της πλήρους νουκλεοτιδικής αλληλουχίας δύο ομοειδικών μιτοχονδριακών γονιδιωμάτων με διαφορετικές οδούς κληρονόμησης στο είδος Mytilus galloprovincialis.

Degree: 2007, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)

URL: http://hdl.handle.net/10442/hedi/21800

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Several bivalve species are known to have two highly differentiated mitochondrial genomes one of which follows the standard maternal inheritance (type F) and the other… (more)

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Several bivalve species are known to have two highly differentiated mitochondrial genomes one of which follows the standard maternal inheritance (type F) and the other is transmitted through the sperm (M). Thus, each genome obeys the rule of uniparental transmission. This exceptional phenomenon is known as doubly uniparental inheritance (DUI). This thesis attempts to investigate the functional role of the mtDNA in DUI. It presents the complete sequence of F and M genomes of the Mediterranean mussel Mytilus galloprovincialis and accomplishes a comparative analysis. The maternal and paternal mitochondrial genomes of Mytilus galloprovincialis have diverged by about 20% in nucleotide sequence but retained identical gene content and gene arrangement and similar codon usage bias. They both contain twelve protein genes, two rRNA genes, 23 tRNA genes and seven non coding sequences. In the particular M molecule the only case of recombination in a coding region between the two types is detected. The origin of a large insertion in the M molecule can be explained by a sequence of three genetic events. The identification of tRNA genes was based on their potential to form cloverleaf structures. Both F and M genomes contain two tRNA genes coding for methionine and possibly «role reversal» phenomena may have been involved in their formation. Non coding sequences capable of forming a stable stem and loop structure have been detected in the 5' end of protein genes. These regions may have a crucial functional role in the cleavage of the mitochondrial polycistronic primary transcript. The main control region of Mytilus mtDNA is characterized by its tripartite structure. Within these region lays the origin of replication of mtDNA heavy strand. The origin of replication of the light strand lies within the nad3 gene. The observed nucleotide content gradients are consistent with the assumptions of an asymmetrical replication model and guanine oxidation is apparently the most common source of damage in mussel mtDNA. The F and M sequences of the three DUI species paired according to their species rather than according to their mode of transmission. The hypothesis of multiple origins of DUI is rejected in favor of the hypothesis of «role reversal». Under the assumption of a relatively constant rate, the whole-genome data comparison indicates that the last wave of invasion and replacement of the M line by the F in M. galloprovincialis occurred much more recently than in the other species.

Το φαινόμενο της Διπλής Μονογονεϊκής Κληρονομικότητας (ΔΜΚ) του μιτοχονδριακού DNA αποτελεί τη μοναδική εξαίρεση στο βασικό βιολογικό κανόνα της μονογονεϊκής κληρονόμησης του οργανιδιακού DNA. Περιγράφει την ύπαρξη στο ίδιο είδος δύο μιτοχονδριακών γονιδιωμάτων (F και Μ) καθένα από τα οποία ακολουθεί μονογονεϊκό πρότυπο κληρονόμησης. Σκοπό της διατριβής αποτέλεσε η διερεύνηση του πιθανού λειτουργικού ρόλου του mtDNA στο φαινόμενο. Προσδιορίστηκε η πλήρης πρωτοδιάταξη των τύπων F και Μ του είδους Mytilus galloprovincialis ώστε να πραγματοποιηθεί η συγκριτική…

Subjects/Keywords: Μιτοχονδριακό γονιδίωμα; Διπλή μονογονεϊκή κληρονομικότητα (ΔΜΚ); Γεγονότα ανακατατάξεως στο μιτοχονδριακό γονιδίωμα-ανασυνδιασμός; Ρυθμιστικές περιοχές; Ασύγχρονη αντιγραφή; Νουκλεοτιδικό περιεχόμενο; Γονιδιακή οργάνωση; Αντιστροφή ρόλων; Δίθυρα μαλάκια; Mitochondrial DNA; Doubly uniparental inheritance (DUI); mtDNA; Mytilus galloprovinciallis; D-loop; Role reversal; Heavy and light stand origins of replication; Recombination; tRNA punctuation model

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APA (6^th Edition):

Μίζη, . �. (2007). Το φαινόμενο της διπλής μονογονεϊκής κληρονομικότητας του μιτοχονδριακού DNA: μοριακή ανάλυση της πλήρους νουκλεοτιδικής αλληλουχίας δύο ομοειδικών μιτοχονδριακών γονιδιωμάτων με διαφορετικές οδούς κληρονόμησης στο είδος Mytilus galloprovincialis. (Thesis). National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Retrieved from http://hdl.handle.net/10442/hedi/21800

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Μίζη, Αθανασία. “Το φαινόμενο της διπλής μονογονεϊκής κληρονομικότητας του μιτοχονδριακού DNA: μοριακή ανάλυση της πλήρους νουκλεοτιδικής αλληλουχίας δύο ομοειδικών μιτοχονδριακών γονιδιωμάτων με διαφορετικές οδούς κληρονόμησης στο είδος Mytilus galloprovincialis.” 2007. Thesis, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Accessed January 22, 2021. http://hdl.handle.net/10442/hedi/21800.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Μίζη, Αθανασία. “Το φαινόμενο της διπλής μονογονεϊκής κληρονομικότητας του μιτοχονδριακού DNA: μοριακή ανάλυση της πλήρους νουκλεοτιδικής αλληλουχίας δύο ομοειδικών μιτοχονδριακών γονιδιωμάτων με διαφορετικές οδούς κληρονόμησης στο είδος Mytilus galloprovincialis.” 2007. Web. 22 Jan 2021.

Vancouver:

Μίζη �. Το φαινόμενο της διπλής μονογονεϊκής κληρονομικότητας του μιτοχονδριακού DNA: μοριακή ανάλυση της πλήρους νουκλεοτιδικής αλληλουχίας δύο ομοειδικών μιτοχονδριακών γονιδιωμάτων με διαφορετικές οδούς κληρονόμησης στο είδος Mytilus galloprovincialis. [Internet] [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2007. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10442/hedi/21800.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Μίζη �. Το φαινόμενο της διπλής μονογονεϊκής κληρονομικότητας του μιτοχονδριακού DNA: μοριακή ανάλυση της πλήρους νουκλεοτιδικής αλληλουχίας δύο ομοειδικών μιτοχονδριακών γονιδιωμάτων με διαφορετικές οδούς κληρονόμησης στο είδος Mytilus galloprovincialis. [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2007. Available from: http://hdl.handle.net/10442/hedi/21800

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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