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New possibilities to distinguish monozygotic twins
Letková, Kristína ; Kulichová, Iva (advisor) ; Priehodová, Edita (referee)
The necessity of distinguishing monozygotic twins from a genetic point of view is important not only for determining paternity, when it is decided which of two identical twins is the father, but also, for example, for criminal cases, where it is necessary to identify the perpetrator who is one of the monozygotic twins. In addition to analyzing and evaluating molecular biological methods, the work also deals with monozygotic twins themselves, their emergence and the causes of their emergence. The topic affects both forensic genetics and medical fields.
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Human FADS genes and their adaptive evolution
Motysová, Natalia ; Priehodová, Edita (advisor) ; Kulichová, Iva (referee)
Long chain polyunsaturated fatty acids (LC-PUFA) are one of the key elements that help maintain the optimal health of our organism. Our body is unable to synthesize them de novo, thus we need to synthesize them using various enzymes including desaturases from the diet's precursors. The FADS1 and FADS2 genes encode Δ5D (FADS1) and Δ6D (FADS2) desaturases, which catalyse the desaturation steps of LC-PUFA biosynthesis. Within the FADS gene region, different genetic variants affecting desaturase activity have been identified, one example being single nucleotide mutations forming two haplotypes A (ancestral) and D (derived), a classification later redefined to haplogroup A and D. The activity of Δ5D and Δ6D fatty acid desaturases are influenced by the haplogroup. Individuals with haplogroup D show a higher level of FADS1 gene expression and haplogroup D is also associated with a more efficient conversion of 18-carbon PUFAs to LC-PUFAs. However, this feature varies across populations. Different types of environments require diverse adaptations, and it is adaptation to diet that is very evident in the FADS gene cluster. Higher FADS1 expression and more efficient conversion of 18-carbon PUFAs to LC-PUFAs will be favored in environments with reduced availability of these acids (Africa, India). On the...
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Co-evolutionary aspects of genetic diversity: milk production and lactase persistence
Priehodová, Edita ; Černý, Viktor (advisor) ; Brůžek, Jaroslav (referee) ; Macholán, Miloš (referee)
Lactase persistence (LP) is genetically determined ability to digest lactose (milk sugar) in adulthood. Lactose is digested by the intestinal enzyme - lactase. In mammals, production of lactase declines after the weaning period. In case of the LP, the lactase is produced during whole life and thus it is possible to drink larger amounts of fresh milk without digestive problems. However, LP is documented only in some human populations. Its worldwide distribution is unequal, the highest rates are found in northern Europe and in pastoralists living in arid regions of Africa and Arabia. The origin of this trait is related to the emergence of agriculture 10,000 years ago, and the beginnings of milk production. In some populations, there is a strong signal of positive selection for the LP caused by various factors depending on various living conditions. The LP is associated with single nucleotide polymorphisms (SNPs) located approximately 14 kb upstream from lactase gene. Nowadays we know five different SNPs which cause the LP and they have probably different origin and have expanded independently. One of the possible centres of the LP origin is the Arabian Peninsula, where the LP variant -13,915*G probably first appeared and spread. In this thesis, occurrences of different LP mutations were investigated...
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The importance of Neolithic expansion in Central Europe - an assessment of phylogenetic age of mtDNA haplogroups in the Czech population.
Priehodová, Edita ; Černý, Viktor (advisor) ; Brdička, Radim (referee)
Agriculture, with different Neolithic cultures, starts in the Near East more than 10,000 years ago. This new way of life has very different archaeological manifestations that previous Mesolithic. After its Near Eastern emergence, the farming practices rapidly penetrated into southeastern Europe and the first signs of Neolithic in Central Europe are already 7,000 years old. It is being considered that the cultural innovations influenced demographic growth of the populations that have taken part in the Neolithic spread. In such situation, new mutations would have to fix and could form new specific haplogroups for Europe with ancestral ties to the Near East. Phylogeographic studies such as founder analysis of European and Near Eastern mtDNA sequences found that the European Neolithic component was enriched mainly by haplogroups J and T1, and that the genetic contribution of farming economy in European gene pool is about 10 - 20%. However, studies like these have not been yet realized in particular parts of Europe. The aim of this thesis is to disentangle the internal variability of Central European haplogroups J and T1 thought to be involved in the Neolithic demic diffusion. We classified these haplogroups from the HVS-I mtDNA sequences of 281 samples of the recent population of the Czech Republic. We...
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Age estimation from human biological material based on DNA methylation
Matoušková, Laura ; Kulichová, Iva (advisor) ; Priehodová, Edita (referee)
DNA methylation is one of the epigenetics modifications which performs many functions in human body by silencing genes and maintaining genomic stability. Changes in DNA methylation accumulate during life and current studies indicate that the level of methylation in certain loci (CpG dinucletotides) correlates with chronological age. However, the methylation pattern changes not only with increasing age but it can also be affected by our lifestyle choices and biogeographical origin. Therefore, the key for succesful age estimation is finding such CpG loci that are independent (or as little dependent as possible) on other variables. This bachelor thesis describes the issue of age estimation based on DNA analysis of specific methylated DNA loci with focus on its application in forensic practice.
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The importance of Neolithic expansion in Central Europe - an assessment of phylogenetic age of mtDNA haplogroups in the Czech population.
Priehodová, Edita ; Černý, Viktor (advisor) ; Brdička, Radim (referee)
Agriculture, with different Neolithic cultures, starts in the Near East more than 10,000 years ago. This new way of life has very different archaeological manifestations that previous Mesolithic. After its Near Eastern emergence, the farming practices rapidly penetrated into southeastern Europe and the first signs of Neolithic in Central Europe are already 7,000 years old. It is being considered that the cultural innovations influenced demographic growth of the populations that have taken part in the Neolithic spread. In such situation, new mutations would have to fix and could form new specific haplogroups for Europe with ancestral ties to the Near East. Phylogeographic studies such as founder analysis of European and Near Eastern mtDNA sequences found that the European Neolithic component was enriched mainly by haplogroups J and T1, and that the genetic contribution of farming economy in European gene pool is about 10 - 20%. However, studies like these have not been yet realized in particular parts of Europe. The aim of this thesis is to disentangle the internal variability of Central European haplogroups J and T1 thought to be involved in the Neolithic demic diffusion. We classified these haplogroups from the HVS-I mtDNA sequences of 281 samples of the recent population of the Czech Republic. We...
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Co-evolutionary aspects of genetic diversity: milk production and lactase persistence
Priehodová, Edita ; Černý, Viktor (advisor) ; Brůžek, Jaroslav (referee) ; Macholán, Miloš (referee)
Lactase persistence (LP) is genetically determined ability to digest lactose (milk sugar) in adulthood. Lactose is digested by the intestinal enzyme - lactase. In mammals, production of lactase declines after the weaning period. In case of the LP, the lactase is produced during whole life and thus it is possible to drink larger amounts of fresh milk without digestive problems. However, LP is documented only in some human populations. Its worldwide distribution is unequal, the highest rates are found in northern Europe and in pastoralists living in arid regions of Africa and Arabia. The origin of this trait is related to the emergence of agriculture 10,000 years ago, and the beginnings of milk production. In some populations, there is a strong signal of positive selection for the LP caused by various factors depending on various living conditions. The LP is associated with single nucleotide polymorphisms (SNPs) located approximately 14 kb upstream from lactase gene. Nowadays we know five different SNPs which cause the LP and they have probably different origin and have expanded independently. One of the possible centres of the LP origin is the Arabian Peninsula, where the LP variant -13,915*G probably first appeared and spread. In this thesis, occurrences of different LP mutations were investigated...
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