Maternal Lineages (maternal + lineage)

Distribution by Scientific Domains

Selected Abstracts

Estimation of variance components due to imprinting effects with DFREML and VCE: results of a simulation study

Treating gametes as homozygous diploid individuals, TIER and SÖLKNER (Theor. Appl. Genet. 85: 868,872, 1993) proposed a method which manages the use of available computer programs with a common animal model to estimate variance components caused by imprinting effects. Despite some relevant model restrictions, this approach has already been used in some field data analyses by an adapted version of the widely used DFREML computer program, subsequently indicated by DFREMLa. The main objective of this study was to ascertain the properties of DFREMLa by computer simulation and to examine other alternative estimation approaches. The most important results may be summarized as follows: (1) Treating gametes as homozygous diploid individuals has the consequence that one-half of the actually realized gametic effect is totally abstracted in variance component estimation. Thus, an additional adjustment of the phenotypic variance calculated by DFREMLa is necessary to get correct values of estimated variance component ratios. (2) Adjusted DFREMLa estimates yielded correct results when animals were unselected and only maternal or paternal imprinting (not both simultaneously) occurred. (3) When the model did not adequately account for the additive genetic component within a maternal lineage, significant upward biases for the cytoplasmic component were observed. (4) The use of a simple dam and sire model with appropriate relationship matrices can be recommended when only the difference of maternal and paternal imprinting effects is of primary interest and the covariance between maternal halfsibs is not substantially increased by common environmental effects. (5) An adequate estimation of variance components for all possible imprinting situations requires the use of an animal model augmented by both maternal and paternal gametic effects. Unfortunately, a computer program on the basis of such a model does not yet exist. Schätzung von Varianzkomponenten für Imprintingeffekte mittels DFREML und VCE: Ergebnisse einer Simulationsstudie TIER and SÖLKNER (Theor. Appl. Genet. 85: 868,872, 1993) schlugen eine Methode zur Schätzung von imprintingbedingten Varianzkomponenten vor, die mit einem einfach zu adaptierenden Computerprogramm auf der Basis eines üblichen Tiermodells vorgenommen werden kann, indem sie Gameten wie homozygot diploide Individuen behandelten. Obwohl dieser Ansatz einige praxisrelevante Einschränkungen hat, wurde er bereits bei einigen Felddatenanalysen verwendet. Für diesen Zweck wurde eine entsprechend adaptierte Version des häufig verwendeten Computerprogrammes DFREML eingesetzt, die im folgenden mit DFREMLa bezeichnet wird. Das Ziel der vorliegen Untersuchung lag darin, die Eigenschaften von DFREMLa bei verschiedenen Imprintingsituationen zu überprüfen und weiters die Brauchbarkeit anderer möglicher Schätzansätze zu überprüfen. (1) Werden Gameten wie diploide homozygote Individuen aufgefaßt, dann geht bei der Schätzung von Varianzkomponenten mit DFREMLa eine Hälfte des tatsächlich wirksamen Gameteneffektes völlig verloren. Das heißt, die von DFREMLa ausgewiesenen Ergebnisse müssen nachträglich entsprechend adjustiert werden, um korrekte Schätzergebnisse für alle jene Quotienten von Varianzkomponenten zu erhalten, bei denen die gesamte phänotypische Varianz im Nenner steht. (2) Die adjustierten DFREMLa Schätzwerte lieferten in all jenen Fällen korrekte Ergebnisse, wo keine Selektion der Tiere erfolgte und entweder nur maternales oder paternales Imprinting (nicht beide gleichzeitig) auftrat. (3) Alle Modelle, bei denen die additiv genetische Komponente innerhalb einer Kuhfamilie keine adäquate Berücksichtigung fand, führten zu einer systematischen Überschätzung der zytoplasmatischen Varianzkomponente. (4) Ist nur jene Varianzkomponente von Interesse, die durch unterschiedlich starkes maternales bzw. paternales Imprinting erklärt werden kann, dann kann auch die Verwendung einfacher Vater-bzw. Muttermodelle empfohlen werden. Voraussetzung hierfür ist allerdings, daß die Kovarianz zwischen mütterlichen Halbgeschwistern durch keine gemeinsame Umwelt erhöht ist. (5) Eine für alle Imprintingsituationen problemadäquate Schätzung von Varianzkomponenten verlangt die Anwendung eines Tiermodelles, erweitert um beide imprintingbedingten Gameteneffekte. Leider fehlt gegenwärtig hierfür noch ein entsprechendes Computerprogramm. [source]

De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

Abstract: A 14-year-old Chinese boy with a normal perinatal and early developmental history presented at 5 years of age with migraine, intractable epilepsy, ataxia, supraventricular tachycardia, paralytic ileus and progressive mental deterioration. Computerized tomography revealed multiple cerebral infarcts in the parieto-occipital region without basal ganglial calcification. Magnetic resonance imaging showed increased signal intensity in T2 weighted images in the same regions. A cerebral digital subtraction angiogram was normal. Venous lactate, pyruvate, lactate to pyruvate ratio and cerebrospinal fluid lactate were elevated. Muscle biopsy did not reveal any ragged red fibres; dinucleotide,tetrazolium reductase activity was normal. Mitochondrial DNA analysis detected an adenine to guanine mutation at nucleotide position 3243 of tRNALeu(UUR). All four tissues analysed demonstrated heteroplasmy: leucocyte 56%, hair follicle 70%; buccal cell 64%; muscle 54%. The mother and brother of the proband, both asymptomatic, were also found to have a heteroplasmic A3243G mutation in the leucocytes, hair follicle and buccal cells. Other members of the maternal lineage, including the maternal grandmother, did not have the mutation. This report describes a patient with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, who presented with multisystem involvement. The absence of ragged red fibres in muscle biopsy did not preclude the diagnosis. Mutational analysis of mitochodrial DNA conveniently confirmed the diagnosis of the disorder. A de novo mutaton is demonstrated in this family. [source]

Iberian origin of Brazilian local pig breeds based on Cytochrome b (MT-CYB) sequence

C. A. Souza
Summary The aim of this work was to investigate the possible origin of local Brazilian pig breeds through Cytochrome b (MT-CYB) mitochondrial analyses. The results indicated that the main local pig breeds descended from two different European maternal lineages, both Iberian varieties. The haplotype relationship analysis showed that Monteiro, Nilo, Piau and Tatu breeds share haplotypes only with Iberian varieties, while the Moura breed presented a different maternal lineage. The Moura appears to share a high frequency of haplotypes with the Black Hairy Iberian variety and Hungarian Mangalica breed. [source]

Variation in mitochondrial DNA and maternal genetic ancestry of Ethiopian cattle populations

H. Dadi
Summary This study describes complete control region sequences of mitochondrial DNA (mtDNA) from 117 Ethiopian cattle from 10 representative populations, in conjunction with the available cattle sequences in GenBank. In total, 79 polymorphic sites were detected, and these defined 81 different haplotypes. The haplotype and nucleotide diversity of Ethiopian cattle did not vary among the populations studied. All mtDNA sequences from Ethiopian cattle converged into one main maternal lineage (T1) that corresponds to African Bos taurus cattle. According to the results of this study, no zebu mtDNA haplotypes have been found in Ethiopia, where the most extensive hybridization took place on the African continent. [source]

A fine map for maternal lineage analysis by mitochondrial hypervariable region in 12 Chinese goat breeds

Yan-Ping WU
ABSTRACT As the fast pace of genomic research continues to identify mitochondrial lineages in animals, it has become apparent that many independent studies are needed to support a robust phylogenetic inference. The aim of this study was thus to further characterize the maternal lineage, proposed to originate in southwestern region of China, using a wider survey of diverse goat breeds in China. To this end, we sequenced the mitochondrial hypervariable region 1 (HVR1) of the mtDNA control region in 145 goats of 12 Chinese breeds. Phylogenetic analysis revealed that Chinese goats were classified into four distinct lineages (A, B, C and D) as previously reported. A Mantel test and the analysis of Analysis of Molecular Variance (ANOVA) indicated that there was not an obvious geographic structure among Chinese goat breeds. Population expansion analysis based on mismatch distribution and Fu's Fs statistic indicate that two expansion events in Chinese goats occurred respectively at about 11 and 29 mutational time units ago, revealing two star-like subclades in lineage B corresponding to two population expansion events. Moreover, lineage B sequences were presented only in the breeds of southwestern or surrounding regions of China. Multiple lines of evidence from this study and previous studies indicate that for Chinese goats mtDNA lineage B originated from the southwestern region of China. [source]

Mitochondrial DNA analysis of Nepalese domestic dwarf cattle Lulu,

ABSTRACT Dwarf Lulu cattle, the only Bos Taurus type of cattle in Nepal, are raised under severe environments in the mountainous zone of that country. In the present study, the body measurement traits, cytogenetic and molecular genetic characteristics of the Lulu cattle are investigated. Blood samples were collected from 31 animals in four villages (altitudes 2590,3550 m) in the southern part of Mustang. The Lulu cattle had a normal karyotype with 2n = 60, XY or XX. Only one male examined had a large submetacentric X-chromosome and a small submetacentric taurine type Y-chromosome. The mitochodrial DNA (mtDNA) genotypes were analyzed by PCR mediated restriction fragment length polymorphisms, displacement (D)-loop region PCR mediated single strand conformation polymorphisms, and D-loop region sequences. Many base substitutions were found in the D-loop region, suggesting that the Lulu cattle originated from at least 10 maternal lines. Three types of mtDNA from these cattle were found, the Bos taurus type (n = 23), the Bos indicus type (n = 6), and the Bos grunniens type (n = 2). In the village at the lowest altitude, four of the five cows were of the Bos indicus type. These results indicated that mtDNA types of the Lulu cattle mostly belong to Bos taurus, but have been hybridized with Bos indicus cattle in lower-elevation regions in their maternal lineage. [source]

Genetic diversity and structure of the West Balkan Pramenka sheep types as revealed by microsatellite and mitochondrial DNA analysis

Summary Several different phenotypes of the native Pramenka sheep have been developed in the Balkan region for different environmental and socio-cultural conditions. Animals from seven West Balkan Pramenka sheep types were analysed for 15 microsatellite markers and for mitochondrial DNA (mtDNA) and the results were used to assess genetic variation within and among the types and to infer the genetic population structure of the Pramenka sheep. Mean expected heterozygosity and allelic richness over the microsatellite loci and sheep types were 0.78 and 7.9, respectively. A Bayesian statistical method for estimating hidden genetic structure suggested that a core of the largest panmictic population was formed by Serbian, Kosovan, Bosnian, Montenegrin and Albanian types, while Croatian and Macedonian types comprised two other main populations, respectively. Mitochondrial DNA analysis revealed two mtDNA haplogroups in the Pramenka sheep, B and A, with a frequency of 93.7% and 6.3%, respectively. A total of 60 mtDNA haplotypes were found in 64 animals sequenced, and the mean nucleotide and haplotypic diversities over the types were 0.013 and 0.945, respectively. Molecular analysis suggests that the West Balkan Pramenka sheep types have their origins in two distinct maternal lineages of domestic sheep and different Pramenka phenotypes tend to form few panmictic populations. The Pramenka sheep represents a valuable resource of genetic diversity in sheep. [source]

Population structure and history of southern African scrub hares, Lepus saxatilis

U. Kryger
Abstract Genetic differentiation among populations of the South African scrub hare Lepus saxatilis was examined using hypervariable mitochondrial DNA control region I (CR-I) sequences. Neighbour-joining analysis revealed a pattern that did not correspond to the current subspecies delineations. The CR-I sequence data delimit scrub hares into three major maternal lineages. The three phylogenetic assemblages exhibited different geographical distributions. AMOVA analyses and exact tests for population differentiation confirmed this phylogeographic partitioning. One lineage (SW) was confined to the south-western Cape, the second lineage (N) was exclusively found in the northern part of South Africa and in the neighbouring countries, and the third lineage (C) was predominant in the central parts of South Africa. This spatial distribution did not coincide with the ranges of the 10 described subspecies covered by our sampling regime. The lineages C and N overlapped in an area including eastern parts of South Africa and southern Namibia. The presence of both lineages in that area of overlap was interpreted as the result of secondary contact due to recent range expansions after the two lineages had undergone a population restriction approximately 18 000 years ago. Analyses of contemporary gene flow disclosed an exchange of migrants between N and C, which was biased towards a movement from C to N. The SW group represents a very distinct evolutionary lineage that has been isolated for more than 45 000 years. It does not exchange female migrants with the other two groups. Mismatch distribution analyses indicated sudden population size expansions in the history of all three populations. [source]

World-wide genetic differentiation of Eubalaena: questioning the number of right whale species

H. C. Rosenbaum
Abstract Few studies have examined systematic relationships of right whales (Eubalaena spp.) since the original species descriptions, even though they are one of the most endangered large whales. Little morphological evidence exists to support the current species designations for Eubalaena glacialis in the northern hemisphere and E. australis in the southern hemisphere. Differences in migratory behaviour or antitropical distribution between right whales in each hemisphere are considered a barrier to gene flow and maintain the current species distinctions and geographical populations. However, these distinctions between populations have remained controversial and no study has included an analysis of all right whales from the three major ocean basins. To address issues of genetic differentiation and relationships among right whales, we have compiled a database of mitochondrial DNA control region sequences from right whales representing populations in all three ocean basins that consist of: western North Atlantic E. glacialis, multiple geographically distributed populations of E. australis and the first molecular analysis of historical and recent samples of E. glacialis from the western and eastern North Pacific Ocean. Diagnostic characters, as well as phylogenetic and phylogeographic analyses, support the possibility that three distinct maternal lineages exist in right whales, with North Pacific E. glacialis being more closely related to E. australis than to North Atlantic E. glacialis. Our genetic results provide unequivocal character support for the two usually recognized species and a third distinct genetic lineage in the North Pacific under the Phylogenetic Species Concept, as well as levels of genetic diversity among right whales world-wide. [source]

Genetic characterization of uniparental lineages in populations from Southwest Iberia with past malaria endemicity

Vânia Pereira
Malaria endemicity in Southwest Iberia afforded conditions for an increase of sickle cell disease (SCD), which in the region follows a clinal pattern toward the south, where foci of high prevalence were found. SCD distribution is associated with specific geographical areas, and therefore, its introduction into Iberia may be related to the migration of different populations. We have analyzed the variation of uniparental markers in Portuguese populations with high frequency of SCD,Coruche, Pias, and Alcacer do Sal,to evaluate if their present-day pattern of neutral diversity could provide evidence about people inhabiting the area over different time periods. Two hundred and eighty-five individuals were sampled in Coruche, Pias, and Alcacer do Sal. All were analyzed for the control region of mitochondrial DNA (mtDNA); males were additionally examined for Y-chromosome markers. Results were then compared with data from other Portuguese and non-Portuguese populations. In Coruche, the genetic profile was similar to the profile usually found in Portugal. In Alcacer do Sal, the frequency of sub-Saharan mtDNA L lineages was the highest ever reported (22%) in Europe. In Pias, mtDNA diversity revealed higher frequencies of Mediterranean haplogroups I, J, and T than usually found in surrounding populations. The presence of Sub-Saharan maternal lineages in Alcacer do Sal is likely associated with the influx of African slaves between the 15th and 19th centuries, whereas in Pias, the Mediterranean influence might be traced to ancient contacts with Greeks, Phoenicians, and Carthaginians, who established important trading networks in southern Iberia. Am. J. Hum. Biol. 22:588,595, 2010. © 2010 Wiley-Liss, Inc. [source]

,Thawing' of ,frozen' variation in an adventive, facultatively apomictic, clonal weed

Hazel Chapman
Abstract Radiation of adventive, sexually reproducing organisms into a new environment has been well documented, but less is understood about the patterns and processes of geographical radiation in adventive species with uniparental reproduction (parthenogenesis or apomixis), usually associated with ,frozen' variation within maternal lineages. In this study we have used Pilosella officinarum to test the hypothesis that sexual reproduction becomes important in the radiation of adventive facultatively apomictic species. Within its native Europe P. officinarum is an extremely variable species, with eight subspecies and a range of ploidy levels. Pentaploids are always apomictic. However, early chromosome analyses of New Zealand adventive populations, carried out during the 1980s, discovered only pentaploid, apomictic clones. Similar observations were made in an early 1990s study of the same sites. Since then, a range of ploidy levels, including aneuploids, and a plethora of morphological variation, has been recorded. In this paper, we use a combination of image analysis and chromosome counts to show that sexual reproduction has become an important avenue for adaptive radiation in New Zealand populations of P. officinarum. Current populations probably comprise complex among-subspecies hybrids, and possibly among-species hybrids, which are at least partially capable of sexual reproduction and various forms of back-crossing. Somatic mutation may also play an important role in creating morphological variation. DNA fingerprinting did not contribute to this study because this technique failed to distinguish between morphological types observed in the field. [source]

Prehistorical East,West admixture of maternal lineages in a 2,500-year-old population in Xinjiang

Fan Zhang
Abstract As an area of contact between Asia and Europe, Central Asia witnessed a scenario of complex cultural developments, extensive migratory movements, and biological admixture between West and East Eurasians. However, the detanglement of this complexity of diversity requires an understanding of prehistoric contacts of the people from the West and the East on the Eurasia continent. We demonstrated the presence of genetic admixture of West and East in a population of 35 inhabitants excavated in Gavaerk in southern Xinjiang and dated 2,800,2,100 years before present by analyzing their mitochondrial DNA variations. This result indicates that the initial contact of the East and the West Eurasians occurred further east than Central Asia as early as 2,500 years ago. Am J Phys Anthropol, 2010. © 2009 Wiley-Liss, Inc. [source]

Ancient DNA analysis of human remains from the upper capital city of Kublai Khan

Yuqin Fu
Abstract Analysis of DNA from human archaeological remains is a powerful tool for reconstructing ancient events in human history. To help understand the origin of the inhabitants of Kublai Khan's Upper Capital in Inner Mongolia, we analyzed mitochondrial DNA (mtDNA) polymorphisms in 21 ancient individuals buried in the Zhenzishan cemetery of the Upper Capital. MtDNA coding and noncoding region polymorphisms identified in the ancient individuals were characteristic of the Asian mtDNA haplogroups A, B, N9a, C, D, Z, M7b, and M. Phylogenetic analysis of the ancient mtDNA sequences, and comparison with extant reference populations, revealed that the maternal lineages of the population buried in the Zhenzishan cemetery are of Asian origin and typical of present-day Han Chinese, despite the presence of typical European morphological features in several of the skeletons. Am J Phys Anthropol, 2009. © 2008 Wiley-Liss, Inc. [source]

Origin of Hungarian indigenous chicken breeds inferred from mitochondrial DNA D-loop sequences

T. Revay
Summary In this study, we assessed the maternal origin of six Hungarian indigenous chicken breeds using mitochondrial DNA information. Sequences of Hungarian chickens were compared with the D-loop chicken sequences annotated in the GenBank and to nine previously described reference haplotypes representing the main haplogroups of chicken. The first 530 bases of the D-loop region were sequenced in 74 chickens of nine populations. Eleven haplotypes (HIC1 - HIC11) were observed from 17 variable sites. Three sequences (HIC3, HIC8 and HIC9) of our chickens were found as unique to Hungary when searched against the NCBI GenBank database. Hungarian domestic chicken mtDNA sequences could be assigned into three clades and probably two maternal lineages. Results indicated that 86% of the Hungarian haplotypes are related to the reference sequence that likely originated from the Indian subcontinent, while the minor part of our sequences presumably derive from South East Asia, China and Japan. [source]

Y-chromosomal variation confirms independent domestications of swamp and river buffalo

M. Yindee
Summary Y-chromosomal variation in the water buffalo was analysed by sequencing of DBY, ZFY and SRY gene segments. A clear separation of the paternal lineages of the river and swamp types parallels the differences between their maternal lineages and nuclear DNA. Sequence divergence was found to be comparable to the divergence of taurine cattle and zebu, and this divergence predated domestication, confirming that river and swamp buffalo originated from different wild populations. Within a sample of 23 Thai swamp buffaloes, we identified four haplotypes with different geographical distributions, two of which were shared by Thai wild buffaloes. [source]

Iberian origin of Brazilian local pig breeds based on Cytochrome b (MT-CYB) sequence

C. A. Souza
Summary The aim of this work was to investigate the possible origin of local Brazilian pig breeds through Cytochrome b (MT-CYB) mitochondrial analyses. The results indicated that the main local pig breeds descended from two different European maternal lineages, both Iberian varieties. The haplotype relationship analysis showed that Monteiro, Nilo, Piau and Tatu breeds share haplotypes only with Iberian varieties, while the Moura breed presented a different maternal lineage. The Moura appears to share a high frequency of haplotypes with the Black Hairy Iberian variety and Hungarian Mangalica breed. [source]