ABSTRACT This study aimed to evaluate a set of DNA markers for their effectiveness in parentage i... more ABSTRACT This study aimed to evaluate a set of DNA markers for their effectiveness in parentage inference, to quantify the level of pedigree errors in Australian Angora and Cashmere goat herds using different pedigree recording methods, and to investigate genotype mismatches between parent and offspring. The 14 microsatellite markers evaluated in this study provided a high level of power (probability of exclusion, PE >99.70%) for parentage testing. The extent of PE depended on polymorphic information content (PIC) and number of alleles for each marker. The minimum number of MS markers essential for accurate determination of parentage was 12, when neither parent is known (PE1) and 10, when one parent is known (PE2). In both populations, the error rates of recorded sire and dam pedigree were significant, averaging around 12%. The error rates of sire and dam pedigree varied considerably between the two populations, reflecting management differences on the two properties. Of 14 MS markers, one locus, SRCRSP07, had null alleles present in the heterozygous state. This null allele was revealed by mismatches of genotypes of parent-offspring pairs. Highly significant deviation from Hardy–Weinberg Equilibrium and significant heterozygote deficiency was also observed at this locus.
Variable expressivity and incomplete penetrance are common for numerous mutations. In most cases ... more Variable expressivity and incomplete penetrance are common for numerous mutations. In most cases the reasons behind these phenomena remain obscure. Caused by the insertion of a murine retrotransposon into intron 6 of the Axin locus, the Axin(Fu) mutation induces alternative splicing and ultimately leads to abnormal tail development in mice. In this investigation RNase protection assay was used to investigate the potential connection between alternative splicing with the expressivity and penetrance of the mutant allele. The results reported here confirm previous observations that alternative splicing occurs in mRNA transcribed from the mutant Axin(Fu) allele. However this investigation also shows that lower levels of alternative splicing commonly take place in the wild type transcript. Correlation analysis reveals a significant connection between tail abnormalities and the ratio of correct to alternatively spliced mRNAs. Overall this paper demonstrates that higher levels of alternatively spliced mRNAs correlate with stronger expression of the mutant trait.
Natural populations of two semispecies of house mouse, Mus musculus domesticus and M.m. musculus,... more Natural populations of two semispecies of house mouse, Mus musculus domesticus and M.m. musculus, were found to be polymorphic for an aberrant chromosome 1 bearing a large inserted block of homogeneously staining heterochromatin. Strong meiotic drive for the aberrant chromosome from M.m. musculus was previously observed in heterozygous female mice. There are at least three meiotic drive levels determined by different allelic variants of distorter. Homozygotes had low viability and females showed low fertility. Both homo- and heterozygous males had normal fertility and their segregation patterns did not deviate from normal. Computer simulations were performed of the dynamics of aberrant chromosome 1 in demes and populations. The data demonstrate that a spontaneous mutation (inversion) of an aberrant chromosome 1, once arisen, has a high probability of spreading in a population at high coefficients of meiotic drive and migration. In the long-term, the population attains a stationary state which is determined by the drive level and migration intensity. The state of stable genotypic equilibrium is independent of deme and population size, as well as of the initial concentration of the aberrant chromosome. As populations initially polymorphic for the distorters approach the stationary state, the stronger distorter is eliminated. The frequencies of the aberrant chromosome determined by computer analysis agree well with those obtained for the studied Asian M.m. musculus populations. The evolutionary pathways for the origin and fixation of the aberrant chromosome in natural populations are considered.
An aberrant chromosome 1 with two large homogeneously staining insertions was isolated from wild ... more An aberrant chromosome 1 with two large homogeneously staining insertions was isolated from wild populations of Mus musculus musculus. The specific features of the aberrant chromosome have been described elsewhere (Agulnik et al. 1990). These include its preferential entry into the oocyte of heterozygous females, increased mortality of homozygotes and decreased fertility of homozygous females. Here we present data indicating that chromatid segregation in heterozygous females depends upon which sperm enters the oocyte before the second meiotic division: meiotic drive is powerful when it is sperm bearing normal chromosome 1, and segregation normalizes during MII when it is sperm bearing chromosome 1 with the extra segment. Experimental data are adduced and explanations offered for the observed phenomenon.
The properties of the t haplotypes, specific mutant states of the proximal region of chromosomes ... more The properties of the t haplotypes, specific mutant states of the proximal region of chromosomes 17 in the house mouse, are of continuing interest. One such property is increased transmission of the t haplotype by heterozygous t/+ males to offspring. Using the reciprocal translocation T(16;17)43H we have constructed males with tertiary trisomy of chromosome 17 (+T43/+ +/Rb7+) carrying the Robertsonian translocation Rb(16.17)7Bnr. Only the progeny of these males which had inherited either T43/+ or Rb7 from their male parent were viable. The segregation patterns in the offspring of t-bearing trisomics were analysed on days 16-18 of embryonic development. It was found that, when the t12 haplotype is in the normal acrocentric (males+ +T43/+ t12 + /Rb7+ +), its presence in the gamete +t12+/+ + T43 does not produce meiotic drive. However, when t6 is in Rb7, meiotic drive was observed: 80% of offspring carried the t haplotype. It is concluded that the meiotic drive is probably inhibited by the presence of a normal homologue of chromosome 17 in the same sperm. Possible mechanisms for the t haplotype effect are discussed.
An aberrant chromosome 1 carrying an inverted fragment with two amplified DNA regions was isolate... more An aberrant chromosome 1 carrying an inverted fragment with two amplified DNA regions was isolated from wild populations of Mus musculus. Meiotic drive favouring the aberrant chromosome was demonstrated for heterozygous females. Its cause was preferential passage of aberrant chromosome 1 to the oocyte. Genetic analysis allowed us to identify a two-component system conditioning deviation from equal segregation of the homologues. The system consists of a postulated distorter and responder. The distorter is located on chromosome 1 distally to the responder, between the ln and Pep-3 genes, and it acts on the responder when in trans position. Polymorphism of the distorters was manifested as variation in their effect on meiotic drive level in the laboratory strain and mice from wild populations.
Chromosome 1 with one or two long insertions has been previously found in natural mouse populatio... more Chromosome 1 with one or two long insertions has been previously found in natural mouse populations. The inheritance of chromosome 1 with two insertions from the Yakutsk population is analysed in this paper. It was demonstrated that heterozygous females transmit this chromosome to 80-85% of offspring. The observations made at M II, in conjunction with the recombination data, allowed us to conclude that preferential passage of the chromosome 1 with insertions to the oocyte and egg, rather than to the first and second polar bodies at meiosis, is the causative factor of the distorted segregation. A meiotic drive of such potency has not been previously reported for female mammals. The possible mechanism of the drive is discussed.
Hybrid sequences have been described previously that consist of a 5' region homologous to... more Hybrid sequences have been described previously that consist of a 5' region homologous to ORF2 of LINEs and a 3' end that shares homology with a sequence located in the first intron of Cepsilon immunoglobulin. The present investigation has revealed 14 new sequences from seven murine species, that show high homology to those observed earlier. Database search has found several new homologous hybrid sequences including one located in the mouse T-cell receptor (Tcra) locus. Several interesting features of this sequence include identical 15-bp flanking short direct repeats as well as poly-A signal and A-rich sequence at the 3' end. We have classified this set of sequences as LINE-derived elements (LDEs), which constitute a newly observed subfamily. Comparative analysis of these sequences suggests that a single recombination event was responsible for the production of an LDE progenitor. The phylogenetic tree shows a number of elements that pre-existed in the common ancestor of murine species and displays different evolutionary rates. The time of LDE origin is estimated at approximately 10-15 MYA.
This chapter presents the taxonomic classification of pigs, other species belonging to the genus ... more This chapter presents the taxonomic classification of pigs, other species belonging to the genus Sus and other members of the Suiformes.
The periodic pattern of DNA in exons is a known phenomenon. It was suggested that one of the init... more The periodic pattern of DNA in exons is a known phenomenon. It was suggested that one of the initial causes of periodicity could be the universal (RNY)npattern (R = A or G, Y = C or U, N = any base) of ancient RNA. Two major questions were addressed in this paper. Firstly, the cause of DNA periodicity, which was investigated by comparisons between real and simulated coding sequences. Secondly, quantification of DNA periodicity was made using an evolutionary algorithm, which was not previously used for such purposes. We have shown that simulated coding sequences, which were composed using codon usage frequencies only, demonstrate DNA periodicity very similar to the observed in real exons. It was also found that DNA periodicity disappears in the simulated sequences, when the frequencies of codons become equal. Frequencies of the nucleotides (and the dinucleotide AG) at each location along phase 0 exons were calculated for C. elegans, D. melanogaster and H. sapiens. Two models were use...
3 Molecular Genetics of Coat Colour Variation Leif Andersson1 and Graham Plastow2 1Uppsala Univer... more 3 Molecular Genetics of Coat Colour Variation Leif Andersson1 and Graham Plastow2 1Uppsala University and Swedish University of Agricultural Sciences, Sweden; 2University of Alberta, Canada Introduction 38 The Dominant White (I) LocusExtensive Allelic Diversity 39 The ...
ABSTRACT This study aimed to evaluate a set of DNA markers for their effectiveness in parentage i... more ABSTRACT This study aimed to evaluate a set of DNA markers for their effectiveness in parentage inference, to quantify the level of pedigree errors in Australian Angora and Cashmere goat herds using different pedigree recording methods, and to investigate genotype mismatches between parent and offspring. The 14 microsatellite markers evaluated in this study provided a high level of power (probability of exclusion, PE >99.70%) for parentage testing. The extent of PE depended on polymorphic information content (PIC) and number of alleles for each marker. The minimum number of MS markers essential for accurate determination of parentage was 12, when neither parent is known (PE1) and 10, when one parent is known (PE2). In both populations, the error rates of recorded sire and dam pedigree were significant, averaging around 12%. The error rates of sire and dam pedigree varied considerably between the two populations, reflecting management differences on the two properties. Of 14 MS markers, one locus, SRCRSP07, had null alleles present in the heterozygous state. This null allele was revealed by mismatches of genotypes of parent-offspring pairs. Highly significant deviation from Hardy–Weinberg Equilibrium and significant heterozygote deficiency was also observed at this locus.
Variable expressivity and incomplete penetrance are common for numerous mutations. In most cases ... more Variable expressivity and incomplete penetrance are common for numerous mutations. In most cases the reasons behind these phenomena remain obscure. Caused by the insertion of a murine retrotransposon into intron 6 of the Axin locus, the Axin(Fu) mutation induces alternative splicing and ultimately leads to abnormal tail development in mice. In this investigation RNase protection assay was used to investigate the potential connection between alternative splicing with the expressivity and penetrance of the mutant allele. The results reported here confirm previous observations that alternative splicing occurs in mRNA transcribed from the mutant Axin(Fu) allele. However this investigation also shows that lower levels of alternative splicing commonly take place in the wild type transcript. Correlation analysis reveals a significant connection between tail abnormalities and the ratio of correct to alternatively spliced mRNAs. Overall this paper demonstrates that higher levels of alternatively spliced mRNAs correlate with stronger expression of the mutant trait.
Natural populations of two semispecies of house mouse, Mus musculus domesticus and M.m. musculus,... more Natural populations of two semispecies of house mouse, Mus musculus domesticus and M.m. musculus, were found to be polymorphic for an aberrant chromosome 1 bearing a large inserted block of homogeneously staining heterochromatin. Strong meiotic drive for the aberrant chromosome from M.m. musculus was previously observed in heterozygous female mice. There are at least three meiotic drive levels determined by different allelic variants of distorter. Homozygotes had low viability and females showed low fertility. Both homo- and heterozygous males had normal fertility and their segregation patterns did not deviate from normal. Computer simulations were performed of the dynamics of aberrant chromosome 1 in demes and populations. The data demonstrate that a spontaneous mutation (inversion) of an aberrant chromosome 1, once arisen, has a high probability of spreading in a population at high coefficients of meiotic drive and migration. In the long-term, the population attains a stationary state which is determined by the drive level and migration intensity. The state of stable genotypic equilibrium is independent of deme and population size, as well as of the initial concentration of the aberrant chromosome. As populations initially polymorphic for the distorters approach the stationary state, the stronger distorter is eliminated. The frequencies of the aberrant chromosome determined by computer analysis agree well with those obtained for the studied Asian M.m. musculus populations. The evolutionary pathways for the origin and fixation of the aberrant chromosome in natural populations are considered.
An aberrant chromosome 1 with two large homogeneously staining insertions was isolated from wild ... more An aberrant chromosome 1 with two large homogeneously staining insertions was isolated from wild populations of Mus musculus musculus. The specific features of the aberrant chromosome have been described elsewhere (Agulnik et al. 1990). These include its preferential entry into the oocyte of heterozygous females, increased mortality of homozygotes and decreased fertility of homozygous females. Here we present data indicating that chromatid segregation in heterozygous females depends upon which sperm enters the oocyte before the second meiotic division: meiotic drive is powerful when it is sperm bearing normal chromosome 1, and segregation normalizes during MII when it is sperm bearing chromosome 1 with the extra segment. Experimental data are adduced and explanations offered for the observed phenomenon.
The properties of the t haplotypes, specific mutant states of the proximal region of chromosomes ... more The properties of the t haplotypes, specific mutant states of the proximal region of chromosomes 17 in the house mouse, are of continuing interest. One such property is increased transmission of the t haplotype by heterozygous t/+ males to offspring. Using the reciprocal translocation T(16;17)43H we have constructed males with tertiary trisomy of chromosome 17 (+T43/+ +/Rb7+) carrying the Robertsonian translocation Rb(16.17)7Bnr. Only the progeny of these males which had inherited either T43/+ or Rb7 from their male parent were viable. The segregation patterns in the offspring of t-bearing trisomics were analysed on days 16-18 of embryonic development. It was found that, when the t12 haplotype is in the normal acrocentric (males+ +T43/+ t12 + /Rb7+ +), its presence in the gamete +t12+/+ + T43 does not produce meiotic drive. However, when t6 is in Rb7, meiotic drive was observed: 80% of offspring carried the t haplotype. It is concluded that the meiotic drive is probably inhibited by the presence of a normal homologue of chromosome 17 in the same sperm. Possible mechanisms for the t haplotype effect are discussed.
An aberrant chromosome 1 carrying an inverted fragment with two amplified DNA regions was isolate... more An aberrant chromosome 1 carrying an inverted fragment with two amplified DNA regions was isolated from wild populations of Mus musculus. Meiotic drive favouring the aberrant chromosome was demonstrated for heterozygous females. Its cause was preferential passage of aberrant chromosome 1 to the oocyte. Genetic analysis allowed us to identify a two-component system conditioning deviation from equal segregation of the homologues. The system consists of a postulated distorter and responder. The distorter is located on chromosome 1 distally to the responder, between the ln and Pep-3 genes, and it acts on the responder when in trans position. Polymorphism of the distorters was manifested as variation in their effect on meiotic drive level in the laboratory strain and mice from wild populations.
Chromosome 1 with one or two long insertions has been previously found in natural mouse populatio... more Chromosome 1 with one or two long insertions has been previously found in natural mouse populations. The inheritance of chromosome 1 with two insertions from the Yakutsk population is analysed in this paper. It was demonstrated that heterozygous females transmit this chromosome to 80-85% of offspring. The observations made at M II, in conjunction with the recombination data, allowed us to conclude that preferential passage of the chromosome 1 with insertions to the oocyte and egg, rather than to the first and second polar bodies at meiosis, is the causative factor of the distorted segregation. A meiotic drive of such potency has not been previously reported for female mammals. The possible mechanism of the drive is discussed.
Hybrid sequences have been described previously that consist of a 5' region homologous to... more Hybrid sequences have been described previously that consist of a 5' region homologous to ORF2 of LINEs and a 3' end that shares homology with a sequence located in the first intron of Cepsilon immunoglobulin. The present investigation has revealed 14 new sequences from seven murine species, that show high homology to those observed earlier. Database search has found several new homologous hybrid sequences including one located in the mouse T-cell receptor (Tcra) locus. Several interesting features of this sequence include identical 15-bp flanking short direct repeats as well as poly-A signal and A-rich sequence at the 3' end. We have classified this set of sequences as LINE-derived elements (LDEs), which constitute a newly observed subfamily. Comparative analysis of these sequences suggests that a single recombination event was responsible for the production of an LDE progenitor. The phylogenetic tree shows a number of elements that pre-existed in the common ancestor of murine species and displays different evolutionary rates. The time of LDE origin is estimated at approximately 10-15 MYA.
This chapter presents the taxonomic classification of pigs, other species belonging to the genus ... more This chapter presents the taxonomic classification of pigs, other species belonging to the genus Sus and other members of the Suiformes.
The periodic pattern of DNA in exons is a known phenomenon. It was suggested that one of the init... more The periodic pattern of DNA in exons is a known phenomenon. It was suggested that one of the initial causes of periodicity could be the universal (RNY)npattern (R = A or G, Y = C or U, N = any base) of ancient RNA. Two major questions were addressed in this paper. Firstly, the cause of DNA periodicity, which was investigated by comparisons between real and simulated coding sequences. Secondly, quantification of DNA periodicity was made using an evolutionary algorithm, which was not previously used for such purposes. We have shown that simulated coding sequences, which were composed using codon usage frequencies only, demonstrate DNA periodicity very similar to the observed in real exons. It was also found that DNA periodicity disappears in the simulated sequences, when the frequencies of codons become equal. Frequencies of the nucleotides (and the dinucleotide AG) at each location along phase 0 exons were calculated for C. elegans, D. melanogaster and H. sapiens. Two models were use...
3 Molecular Genetics of Coat Colour Variation Leif Andersson1 and Graham Plastow2 1Uppsala Univer... more 3 Molecular Genetics of Coat Colour Variation Leif Andersson1 and Graham Plastow2 1Uppsala University and Swedish University of Agricultural Sciences, Sweden; 2University of Alberta, Canada Introduction 38 The Dominant White (I) LocusExtensive Allelic Diversity 39 The ...
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