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Mutation of Human Short Tandem Repeats, (1993)

by J L Weber, C Wong
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Inferences from DNA data: population histories, evolutionary processes, and forensic match probabilities.

by Ian J. Wilson, Michael E. Weale, David J. Balding - Journal of Royal Statistics Society, Series A , 2003
"... We develop a flexible class of... ..."
Abstract - Cited by 26 (0 self) - Add to MetaCart
We develop a flexible class of...

True and false gharials: A nuclear gene phylogeny of Crocodylia

by John Harshman, Christopher J. Huddleston, Jonathan P. Bollback, Thomas J. Parsons - Syst. Biol , 2003
"... Abstract. • The phylogeny of Crocodylia offers an unusual twist on the usual molecules versus morphology story. The true gharial (Gavialis gangeticus) and the false gharial (Tomistoma schlegelii), as their common names imply, have appeared in all cladistic morphological analyses as distantly related ..."
Abstract - Cited by 18 (2 self) - Add to MetaCart
Abstract. • The phylogeny of Crocodylia offers an unusual twist on the usual molecules versus morphology story. The true gharial (Gavialis gangeticus) and the false gharial (Tomistoma schlegelii), as their common names imply, have appeared in all cladistic morphological analyses as distantly related species, convergent upon a similar morphology. In contrast, all previous molecular studies have shown them to be sister taxa. We present the first phylogenetic study of Crocodylia using a nuclear gene. We cloned and sequenced the c-myc proto-oncogene from Alligator mississippiensis to facilitate primer design and then sequenced an 1,100-base pair fragment that includes both coding and noncoding regions and informative indels for one species in each extant crocodylian genus and six avian outgroups. Phylogenetic analyses using parsimony, maximum likelihood, and Bayesian inference all strongly agreed on the same tree, which is identical to the tree found in previous molecular analyses: Gavialis and Tomistoma are sister taxa and together are the sister group of Crocodylidae. Kishino-Hasegawa tests rejected the morphological tree in favor of the molecular tree. We excluded long-branch attraction and variation in base composition among taxa as explanations for this topology. To explore the causes of discrepancy between molecular and morphological estimates of crocodylian phylogeny, we examined puzzling features of the morphological data

The consequences of phenotypic plasticity for ecological speciation

by X. Thibert-plante, A. P. Hendry , 2011
"... We use an individual-based numerical simulation to study the effects of phenotypic plasticity on ecological speciation. We find that adaptive plasticity evolves readily in the presence of dispersal between populations from different ecological environments. This plasticity promotes the colonizatio ..."
Abstract - Cited by 17 (5 self) - Add to MetaCart
We use an individual-based numerical simulation to study the effects of phenotypic plasticity on ecological speciation. We find that adaptive plasticity evolves readily in the presence of dispersal between populations from different ecological environments. This plasticity promotes the colonization of new environments but reduces genetic divergence between them. We also find that the evolution of plasticity can either enhance or degrade the potential for divergent selection to form reproductive barriers. Of particular importance here is the timing of plasticity in relation to the timing of dispersal. If plasticity is expressed after dispersal, reproductive barriers are generally weaker because plasticity allows migrants to be better suited for their new environment. If plasticity is expressed before dispersal, reproductive barriers are either unaffected or enhanced. Among the potential reproductive barriers we considered, natural selection against migrants was the most important, primarily because it was the earliest-acting barrier. Accordingly, plasticity had a much greater effect on natural selection against migrants than on sexual selection against migrants or on natural and sexual selection against hybrids. In general, phenotypic plasticity can strongly alter the process of ecological speciation and should be considered when studying the evolution of reproductive barriers.
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...ra decreases. We only consider cases where there is no direct cost to signalling and choosiness. Neutral loci The neutral loci act like microsatellites, with high mutation rates (10)3) (Dallas, 1992; =-=Weber & Wong, 1993-=-; Brinkmann et al., 1998; Drake et al., 1998) that change the number of repeats in a sequence (Valdes et al., 1993; Di Rienzo et al., 1994). Mutations are stepwise and consist of an increase or decrea...

Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees

by Evelyne Heyer, Jack Puymirat, Patrick Dieltjes, Egbert Bakker , 1997
"... Recently, a set of highly polymorphic chromosome Y specific microsatellites became available for forensic, population genetic and evolutionary studies. However, the lack of a mutation frequency estimate for these loci prevents a reliable application. We therefore used seven chromosome Y tetranucleot ..."
Abstract - Cited by 15 (0 self) - Add to MetaCart
Recently, a set of highly polymorphic chromosome Y specific microsatellites became available for forensic, population genetic and evolutionary studies. However, the lack of a mutation frequency estimate for these loci prevents a reliable application. We therefore used seven chromosome Y tetranucleotide repeat loci to screen 42 males who are descendants from 12 ‘founding fathers’ by a total number of 213 generations. As a result, we were able to estimate an average chromosome Y tetranucleotide mutation frequency of 0.20 % (95 % CIL 0.05–0.55). This closely matches the often cited Weber and Wong estimate of 0.21 % for a set of autosomal tetranucleotide repeats. Expanding the set of microsatellites with two more loci (a tri- and a penta-nucleotide repeat locus) an average chromosome Y microsatellite mutation frequency of 0.21 % (95 % CIL 0.06–0.49) was found. These estimates suggest that microsatellites on the Y chromosome have mutation frequencies comparable to those on the autosomes. This supports the hypothesis that slippage-generated growth is the driving force behind the microsatellite variability.
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... is therefore difficult to put our results in perspective. For human autosomal tetranucleotide repeat loci various studies have resulted in different mutation rates, ranging from 0.015% (16) to 0.21% =-=(17)-=-. Our conservative mutation rate estimate of 0.20%, for chromosome Y tetranucleotide repeat loci only, closely matches the often used Weber and Wong estimate of 0.21%, for a set of chromosome 19 tetra...

Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal

by Vassiliki Samara, Arpita P, Neale Fretwell, Barbara Bernasconi, R. John Mitchell, Tudevdagva Gerelsaikhan, Bumbein Dashnyam, Antti Sajantila, Pia J. Salo, Yutaka Nakahori, Christine M. Disteche, Kumarasamy Thangaraj, Lalji Singh, Michael H. Crawford, Chris Tyler-smith , 1996
"... Deletion of the 50f2/C (DYS7C) locus in interval 6 of Yq has previously been reported as a polymorphism in three males. We describe a survey of worldwide populations for further instances of this deletion. Of 859 males tested, 55 (∼6%) show absence of the 50f2/C locus; duplication of the locus was a ..."
Abstract - Cited by 14 (2 self) - Add to MetaCart
Deletion of the 50f2/C (DYS7C) locus in interval 6 of Yq has previously been reported as a polymorphism in three males. We describe a survey of worldwide populations for further instances of this deletion. Of 859 males tested, 55 (∼6%) show absence of the 50f2/C locus; duplication of the locus was also detected in eight out of 595 males (∼1.4%). Populations having the deletion are confined to Asia, Australasia, and southern and northern Europe; of those of reasonable sample size, Finns had the highest deletion frequency (55%; n = 21). The deletions vary in size and the larger ones remove some of the RBM (RNA Binding Motif) genes, but none of the deletion males lack DAZ (Deleted in AZoospermia), a candidate gene for the azoospermia factor. On a tree of Y haplotypes, 28 deletion and eight
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...50f2/C deletion. Base substitutions have a very low mutation rate [∼10–9 per base per year, or 3 × 10–4 per base per generation (3,4)], and microsatellites a high rate [∼10–3 per locus per generation =-=(17)-=-]. The rate expected for a Yq deletion can be estimated from the frequency of deletions leading to infertility. This is 10–4 per generation (18), but since at least three distinct loci are involved, a...

Models of microsatellite evolution

by Peter Calabrese, Raazesh Sainudiin - Statistical Methods in Molecular Evolution, Series: Statistics for Biology and Health , 2004
"... Microsatellites are simple sequence repeats in DNA, for example the motif AT repeated twenty-five times in a row. Microsatellites mutate by changing the number of their repeats, for example the (AT)25 mentioned in the previous sentence might become an (AT)24 or (AT)26 in that individual’s offspring. ..."
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Microsatellites are simple sequence repeats in DNA, for example the motif AT repeated twenty-five times in a row. Microsatellites mutate by changing the number of their repeats, for example the (AT)25 mentioned in the previous sentence might become an (AT)24 or (AT)26 in that individual’s offspring.
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...same or different, they can differ by just a few repeat units or by many repeat units. Because pedigree experiments have shown that most mutations are a change in one repeat unit (85% in [54], 78% in =-=[50]-=-), some researchers have used microsatellites as molecular clocks. By studying the average number of repeat differences in many microsatellite loci, one can infer the time to the most recent common an...

Leishmania and the Leishmaniases: a parasite genetic update and advances in taxonomy, epidemiology and pathogenicity

by Anne-laure Bañuls, Mallorie Hide, Franck Prugnolle - in humans,” Advances in Parasitology , 2007
"... Abstract................................... 2 ..."
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Abstract................................... 2
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...from 10 2 to 10 5 per generation. The most likely mechanism for length variation is mutation in the repeat number due to slippage during replication (Schlotterer and Tautz, 1992; Strand et al., 1993; =-=Weber and Wong, 1993-=-). It is thought that microsatellite markers occur within all eukaryotic organisms. If this is indeed true, then it is reasonable to expect that they are capable of playing a significant role in the s...

Statistics for microsatellite variation based on coalescence

by Jonathan K. Pritchard, Marcus W. Feldman , 1996
"... The stepwise mutation model, which was at one time chiefly of interest in studying the evolution of protein charge-states, has recently undergone a resurgence of interest with the new popularity of microsatellites as phylogenetic markers. In this paper we describe a method which makes it possible to ..."
Abstract - Cited by 7 (2 self) - Add to MetaCart
The stepwise mutation model, which was at one time chiefly of interest in studying the evolution of protein charge-states, has recently undergone a resurgence of interest with the new popularity of microsatellites as phylogenetic markers. In this paper we describe a method which makes it possible to transfer many population genetics results from the standard infinite sites model to the stepwise mutation model. We study in detail the properties of pairwise differences in microsatellite repeat number between randomly chosen alleles. We show that the problem of finding the expected squared distance between two individuals and finding the variance of the squared distance can be reduced for a wide range of population models to finding the mean and mean square coalescence times. In many cases the distributions of coalescence times have already been studied for infinite site problems. In this study we show how to calculate these quantities for several population models. We also calculate the variance in mean squared pairwise distance (an estimator of mutation rate _ population size) for samples of arbitrary size and show that this variance does not approach zero as the sample size increases. We can also use our method to study alleles at linked microsatellite loci. We suggest a metric which quantifies the level of association between loci effectively a measure of linkage disequilibrium. It is shown that there can be linkage disequilibrium between partially linked loci at mutation drift equilibrium. 1996 Academic Press, Inc.
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...D FELDMAN number of repeats. The typically high levels of diversity stem from an exceedingly high mutation rate (recently estimated to be 5.6_10 &4 for a series of 15 microsatellite loci in humans by =-=Weber and Wong, 1993-=-). The mutational process in microsatellites seems to involve slippage of the DNA strands during replication, usually by a single repeat (Schlotterer and Tautz, 1992). This suggests that the mutation ...

Genetic variation at twenty-three microsatellite loci in sixteen human populations

by Ranjan Deka, Mark D. Shriver, Ling Mei Yu, Elisa Mueller Heidreich, Li Jin, Yixi Zhong, Stephen T. Mcgarvey, Shyam Swarup Agarwal, Clareann H, Tetsuro Miki, Joachim Hundrieser, Shih-jiun Yin, Salmo Raskin, Ramiro Barrantes, Robert E. Ferrell, Ranajit Chakraborty - J. Genet , 1999
"... populations ..."
Abstract - Cited by 7 (1 self) - Add to MetaCart
populations
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...ey in the success of the human genome project. Although these loci are subject to recombination and high mutation rates associated with a convergent nature of mutational process (Shriver et al. 1993; =-=Weber and Wong 1993-=-; Di Rienzo et al. 1994), recent studies have shown that microsatellites are also powerful tools in inferring evolutionary relationships and demographic histories of human populations (Bowcock et al. ...

Analysis of polymorphic microsatellite markers for typing Penicillium marneffei isolates

by Brent A. Lasker, Yuping Ran, Brent A. Lasker, Yuping Ran - J. Clin. Microbiol , 2004
"... These include: This article cites 50 articles, 28 of which can be accessed free at: ..."
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These include: This article cites 50 articles, 28 of which can be accessed free at:
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.... Microsatellite mutation rates were found to be dependent on repeat type, species, and primarily on the length of the microsatellite repeat (36). Generally, the longer the repeat the faster the rate =-=(48)-=-. In the present study DNA sequence analysis was used to confirm that length polymorphisms observed in PMMs I, II, and III were consistent with the number of microsatellite repeat units. PMM primers w...

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