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Juvenile facial morphology from a forensic anthropological perspective: time-series mathematical modeling of 3D facial models
Koudelová, Jana ; Velemínská, Jana (advisor) ; Macek, Milan (referee) ; Macholán, Miloš (referee)
Dealing with increasing number of criminal cases registered on photographs or video recordings, cases of missing persons and long-term wanted offenders, assessment of criminal responsibility or, on the other hand, the necessity of legal protection of minors, requires more precise in facial identification techniques. Forensic facial identification comprises especially of facial age estimation, facial age progression of long-term missing persons or facial reconstruction. All these methods require knowledge of facial development during growth, adolescence and senescence, including variability and sexual dimorphism. The knowledge about facial morphology has been useful also in different biomedical disciplines, as well as in the field of psychosocial sciences or in the study of morphological divergences among human populations. The presented thesis summarizes the results of research on the facial growth and development of juvenile individuals and on the analysis of the influence of senescence changes on facial morphology during aging. The first part is concerned with ontogenetic facial development during childhood and adolescence (7 to 17 years), with regard to puberty, based on longitudinal assessment. The main aims of the study were to describe the morphological variability of the face, analyse the...
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Integrated multi-omics analysis of chemical signaling in wild rodents
Matějková, Tereza ; Stopka, Pavel (advisor) ; Macholán, Miloš (referee) ; Bryja, Josef (referee)
Symbiotic bacteria living with the host in so-called microbiomes have been one of the significant pillars of all aspects of animal evolution, chemical communication included. However, the phenotype, genotype, and microbiome of laboratory animals kept for generations in sterile conditions changed from their wild ancestors leading to profound differences in the laboratory results and the reality of wild animals. To describe the chemical communication in neglected wild rodents, this thesis focuses on the body parts involved in chemical communication (i.e. mouth, vagina, and intestines) and are also inhabited by microbiomes that produce metabolites with the capability of transmitting chemical signals. Using next-generation sequencing and state-of-the-art proteome and metabolome chromatography-mass spectrometry, this thesis covers the analysis of changes in the microbiome, proteome, and metabolome of wild mice in the context of transferring the wild individuals into the captivity, cohousing wild, and laboratory animals and hormonal changes during the estrous cycles. Moreover, this thesis describes and discusses the differences and similarities in the microbiome, proteome, and metabolome on the level of different species (Apodemus sp.), subspecies (Mus musculus domesticus vs. musculus), and environment...
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Population Structure and History of the Sahel From the Point of View of Alcohol Metabolism
Jurišová, Lívia ; Černý, Viktor (advisor) ; Macholán, Miloš (referee)
The Sahel is the northernmost part of sub-Saharan Africa. The Sahel is inhabited by a complex mixture of people, who differ in their ethnic background, language affiliation and lifestyle. The most important and most studied gene of ethanol metabolism, ADH1B, has been understudied in the Sahel region, mainly due to the low frequency of the variant rs1229984-T, which accelerates the first step of alcohol metabolism. Due to its non- African origin, the variant rs1229984-T represents a suitable marker for population history study. The eastern Sahel is where immigrants from Arabia have been settling and mating with African populations since the 7th century CE. To study population structure and history from the point of view of alcohol meta- bolism, we have used already known genotype data from fourteen Sahelian populations, which inhabit mainly the eastern part of the region. Due to the absence of the critical locus rs1229984 in the genotyping array, the samples have been subjected to sequen- cing. Combined data from the microarray and the sequencing constituted 26 loci of the ADH1B gene and its close periphery, which came from 318 samples. Genotypic data needed to be converted into their haplotypic form by a phasing prog- ram. To choose the more appropriate phasing program, the data have been arranged...
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Evolution of PTC bitter taste receptors in West Africa
Holoubková, Tereza ; Černý, Viktor (advisor) ; Macholán, Miloš (referee)
The aim of this thesis is to determine whether the TASR38 gene is under selection pressure in West Africa and if its diversity varies within populations practicing different modes of subsistence. It further focuses on polymorphisms occurring in the gene and their association with sensitivity to the bitter tasting compound PTC. The thesis analyses 147 samples of saliva from three Mauritanian populations in order to sequence the DNA of the TAS2R38 gene exon. Ten polymorphic sites conditioning 16 haplotypes were observed in TAS2R38 gene. Mutations in amino acid positions 49, 262 and 296 occurred in all three populations; all eight possible haplotypes were observed. 94 % of them constitutes major PAV and AVI haplotypes and AAI haplotype, all of which were detected in each of the three populations. Additionally, 14 genotypes were identified in our sample; the most common being those created by a combination of the three haplotypes. Kruskal-Wallis test showed that TAS2R38 genotypes are strong predictors of PTC response in the examined African populations. PAV haplotype is associated with sensitivity to PTC (taster haplotype); conversely, AVI is a nontaster haplotype. At the same time, it was confirmed that PAV is an ancestral haplotype evolutionary closest to the chimpanzee TAS2R38 gene and it probably...
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Parental conflicts and speciation in the house mouse
Kropáčková, Lucie ; Reifová, Radka (advisor) ; Macholán, Miloš (referee)
Hybridization between closely related species of mammals is often accompanied by abnormal growth of placentas and fetuses. From the perspective of evolutionary biology, our knowledge about the contribution of such interspecies incompatibilities in speciation is still insufficient. In my thesis, I was finding out if abnormal placental and fetal growth contributes to reproductive isolation of two subspecies of house mouse, Mus musculus musculus and M. m. domesticus, which are at an early phase of speciation and in nature they still hybridize. Using two inbred strains derived from M. m. musculus (PWD/Ph, STUS) and two inbred strains derived from M. m. domesticus (C57BL6/J, SCHEST) we performed four different intrasubspecies and four different intersubspecies crosses. We found out that the size of the placenta in hybrids is more influenced by father, while the size of the fetus is more influenced by mother. After elimination influence of weight of mother and father we have not recorded a significant difference in the size of placentas and fetuses in intrasubspecies and intersubspecies crosses. Our results show that hybridization between subspecies of house mouse does not produce abnormalities in prenatal development, as was observed in hybrids between distant species of mice. It is thus possible that...
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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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B2 insertions in mouse population genetics
Kubešová, Lenka ; Munclinger, Pavel (advisor) ; Macholán, Miloš (referee)
1. Prolog Nejvíce zkoumaným savcem (s výjimkou člověka) je drobný živočich, všemi velice dobře známý a provázející člověka odnepaměti. Je to domácí myš. Narozdíl od obrovského množství poznatků o inbredních kmenech myší kupodivu doposud stále víme poměrně málo o jejich blízkých příbuzných - volně žijících domácích myších. Zvláště chybí data o genetické struktuře populací na vyšší škále (na úrovni celých kontinentů). Na této škále se v současné době pro studium populační genetiky využívá převážně mitochondriální DNA (mtDNA) díky svým unikátním vlastnostem (jednoduše izolovatelná, nerekombinující, až na vzácné vyjímky uniparetálně děděná a u obratlovců rychle se vyvíjející). Pro zjevné limitace mtDNA jako markeru (jedná se jen o maličký kus genomu navíc vypovídající jen o mateřském původu) a nejednoznačným výsledkům vyvstává potřeba nalézt pro studium populační genetiky myší vhodné markery z jiných částí genomu. Nejvhodnější možností se jeví být markery založené na SINE elementech. SINE (short interspersed elements) jsou úseky DNA, které se nacházejí v genomech obratlovců (běžně se vyskytující u savců, zejména primátů, hlodavců a kopytníků) ve vysokém počtu navzájem si podobných kopií rozmístěných na různých místech genomu. SINE elementy mají jako markery pro populační genetiku několik výhod. Jejich hlavními...
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Speciation genomics in nightingales
Mořkovský, Libor ; Reifová, Radka (advisor) ; Macholán, Miloš (referee) ; Piálek, Lubomír (referee)
Speciationisusuallyaslowprocessoccurringoverthousandstomillionsofyears.Thismakes speciation research difficult because no direct observation or manipulation is possible. At best, we can gain some insight by inferring the population history and structure in very fine detail by investigating genetic markers in multiple individuals of the nascent species. Today, speciationresearchisinanunprecedentedpositionthankstotheadventofhigh-throughput sequencingmethods,whichmakeiteasier and cheaper than ever before to evaluate multiple markers in many individuals. Speciation is not a straightforward process that happens in the same way every time, but rather a phenomenon occurring when genetic and ecological circumstancesactinginsymphonyultimatelyleadtoreproductiveisolationoftwosubpopula- tions. This is why it is important to study multiple model systems to understand the general principles behind speciation. We worked with two species of nightingales (Luscinia luscinia andL.megarhynchos)thatdivergedapproximately1.8Mya,likelyduetoglacialfluctuations in Europe. Our main goal was to use these new high-throughput sequencing methods to (1) detect interspecific hybrids between the species, (2) estimate levels of interspecific gene flow,(3)findareasofthenightingalegenomethatunderliereproductiveisolationand,finally, (4)...
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