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https://www.readbyqxmd.com/read/29148600/new-evidence-for-the-recent-divergence-of-devil-s-hole-pupfish-and-the-plausibility-of-elevated-mutation-rates-in-endangered-taxa
#1
Christopher H Martin, Sebastian Höhna
Saglam et al. (2016) recently argued that the Devil's Hole Pupfish (Cyprinodon diabolis), a conservation icon with the smallest known species range, was isolated 60 kya based on a new genomic dataset. If true, this would be a radically long timescale for any species to persist at population sizes less than 500 individuals, in contrast to conservation genetics theory. However, here we argue that their analyses and interpretation are inappropriate. They placed highly restrictive prior distributions on divergence times, which do not appropriately model the large uncertainty and result in removing nearly all uncertainty from their analyses, and chose among models by assuming that pupfishes exhibit human mutation rates...
November 17, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29145747/two-novel-families-with-hemiplegic-migraine-caused-by-recurrent-scn1a-mutation-p-f1499l
#2
Victoria Schubert, Eva Auffenberg, Saskia Biskup, Karin Jurkat-Rott, Tobias Freilinger
Background Familial hemiplegic migraine type 3 is a monogenic subtype of migraine caused by missense mutations in the neuronal voltage-gated sodium channel gene SCN1A, with 10 different mutations reported so far. In two familial hemiplegic migraine type 3 families, partial cosegregation with a rare eye phenotype (elicited repetitive daily blindness) was previously reported. Methods Two novel familial hemiplegic migraine pedigrees were subjected to genetic analysis and detailed work-up of associated clinical features...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29142187/an-atp2a2-missense-mutation-in-a-japanese-family-with-darier-disease-a-case-report-and-review-of-the-japanese-darier-disease-patients-with-atp2a2-mutations
#3
Min Li, Naoyuki Higashi, Hajime Nakano, Hidehisa Saeki
Darier disease (DD) is a rare autosomal dominant skin disorder due to mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2). The clinical manifestations of DD are characterized by warty papules and plaques in seborrheic areas, and association with neuropsychiatric abnormalities has also been reported in a few families with DD. We herein report a classic Japanese DD case with a previously described mutation (p.C560R) in ATP2A2. In Japan, 26 mutations in the ATP2A2 gene in 7 pedigrees and 19 sporadic cases with DD have been reported, among which one pedigree and one sporadic case were accompanied by neuropsychiatric symptoms...
2017: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#4
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141579/a-missense-variant-in-the-coil1a-domain-of-the-keratin-25-gene-is-associated-with-the-dominant-curly-hair-coat-trait-crd-in-horse
#5
Caroline Morgenthaler, Mathieu Diribarne, Aurélien Capitan, Rachel Legendre, Romain Saintilan, Maïlys Gilles, Diane Esquerré, Rytis Juras, Anas Khanshour, Laurent Schibler, Gus Cothran
BACKGROUND: Curly horses present a variety of curl phenotypes that are associated with various degrees of curliness of coat, mane, tail and ear hairs. Their origin is still a matter of debate and several genetic hypotheses have been formulated to explain the diversity in phenotype, including the combination of autosomal dominant and recessive alleles. Our purpose was to map the autosomal dominant curly hair locus and identify the causal variant using genome-wide association study (GWAS) and whole-genome sequencing approaches...
November 15, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29140467/genomic-prediction-in-a-nuclear-population-of-layers-using-single-step-models
#6
Yiyuan Yan, Guiqin Wu, Aiqiao Liu, Congjiao Sun, Wenpeng Han, Guangqi Li, Ning Yang
Single-step genomic prediction method has been proposed to improve the accuracy of genomic prediction by incorporating information of both genotyped and ungenotyped animals. The objective of this study is to compare the prediction performance of single-step model with a 2-step models and the pedigree-based models in a nuclear population of layers. A total of 1,344 chickens across 4 generations were genotyped by a 600 K SNP chip. Four traits were analyzed, i.e., body weight at 28 wk (BW28), egg weight at 28 wk (EW28), laying rate at 38 wk (LR38), and Haugh unit at 36 wk (HU36)...
November 11, 2017: Poultry Science
https://www.readbyqxmd.com/read/29138904/rice-diversity-panel-provides-accurate-genomic-predictions-for-complex-traits-in-the-progenies-of-biparental-crosses-involving-members-of-the-panel
#7
M Ben Hassen, T V Cao, J Bartholomé, G Orasen, C Colombi, J Rakotomalala, L Razafinimpiasa, C Bertone, C Biselli, A Volante, F Desiderio, L Jacquin, G Valè, N Ahmadi
Rice breeding programs based on pedigree schemes can use a genomic model trained with data from their working collection to predict performances of progenies produced through rapid generation advancement. So far, most potential applications of genomic prediction in plant improvement have been explored using cross validation approaches. This is the first empirical study to evaluate the accuracy of genomic prediction of the performances of progenies in a typical rice breeding program. Using a cross validation approach, we first analyzed the effects of marker selection and statistical methods on the accuracy of prediction of three different heritability traits in a reference population (RP) of 284 inbred accessions...
November 14, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29138689/clarifying-sub-genomic-positions-of-qtls-for-flowering-habit-and-fruit-quality-in-u-s-strawberry-fragaria%C3%A3-ananassa-breeding-populations-using-pedigree-based-qtl-analysis
#8
Sujeet Verma, Jason D Zurn, Natalia Salinas, Megan M Mathey, Beatrice Denoyes, James F Hancock, Chad E Finn, Nahla V Bassil, Vance M Whitaker
The cultivated strawberry (Fragaria×ananassa) is consumed worldwide for its flavor and nutritional benefits. Genetic analysis of commercially important traits in strawberry are important for the development of breeding methods and tools for this species. Although several quantitative trait loci (QTL) have been previously detected for fruit quality and flowering traits using low-density genetic maps, clarity on the sub-genomic locations of these QTLs was missing. Recent discoveries in allo-octoploid strawberry genomics led to the development of the IStraw90 single-nucleotide polymorphism (SNP) array, enabling high-density genetic maps and finer resolution QTL analysis...
2017: Horticulture Research
https://www.readbyqxmd.com/read/29138254/estimating-realized-heritability-in-panmictic-populations
#9
Milan Lstibůrek, Václav Bittner, Gary R Hodge, Jan Picek, Trudy F C Mackay
Narrow sense heritability (h(2) ) is a key concept in quantitative genetics, as it expresses the proportion of the observed phenotypic variation that is transmissible from parents to offspring. h(2) determines the resemblance among relatives and the rate of response to artificial and natural selection. Classical methods for estimating h(2) use random samples of individuals with known relatedness, as well as response to artificial selection, when it is called realized heritability. Here, we present a method for estimating realized h(2) based on a simple assessment of a random-mating population with no artificial manipulation of the population structure, and derive standard errors of the estimates...
November 14, 2017: Genetics
https://www.readbyqxmd.com/read/29131067/estimation-of-trait-model-parameters-in-a-mod-score-linkage-analysis
#10
Markus Brugger, Susanne Rospleszcz, Konstantin Strauch
BACKGROUND/AIMS: Theoretically, the trait-model parameters (disease allele frequency and penetrance function) can be estimated without bias in a MOD score linkage analysis. We aimed to practically evaluate the MOD score approach regarding its ability to provide unbiased trait-model parameters for various pedigree-type and trait-model scenarios. We further investigated the ability of the MOD score approach to detect imprinting using affected sib pairs (ASPs) and affected half-sib pairs (AHSPs) when all parental genotypes are missing...
November 1, 2017: Human Heredity
https://www.readbyqxmd.com/read/29129694/mitochondrial-trna-thr-15909a-g-mutation-associated-with-hypertension-in-a-chinese-han-pedigree
#11
Haiying Li, Junwei Geng, Han Yu, Xiaowen Tang, Xiangjun Yang, Ling Xue
Mitochondrial DNA mutations are one of the molecular genetic bases of hypertension. Here, we performed clinical, genetic and mutational evaluation, molecular characterization as well as biochemical analysis of a Chinese Han family with maternally inherited hypertension. The m.15909A > G variant in tRNA(Thr) was identified. This mutation abolished a highly conserved base pairing (11U-24A) in the D-stem of tRNA(Thr) and affected the structure and function of mitochondrial tRNA(Thr). As a result, the overall levels of mitochondrial translation products was decreased...
November 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29129115/innovative-layer-genetics-to-handle-global-challenges-in-egg-production
#12
R Preisinger
1. In commercial layer breeding, extensive gene pools are tested and selected for market requirements which must be anticipated at least five years ahead. Field results confirm a continuous positive genetic trend in egg output and better feed efficiency which can be converted into land savings. 2. Animal welfare and cage-free housing dominate future needs of the market. Nesting behaviour and minimal tendency to develop feather-pecking or cannibalism without beak treatment, are key trait complexes. Stronger shells for longer production cycles without moulting have to be combined with better bones...
November 13, 2017: British Poultry Science
https://www.readbyqxmd.com/read/29128227/genome-wide-association-study-for-ketosis-in-us-jerseys-using-producer-recorded-data
#13
K L Parker Gaddis, J H Megonigal, J S Clay, C W Wolfe
Ketosis is one of the most frequently reported metabolic health events in dairy herds. Several genetic analyses of ketosis in dairy cattle have been conducted; however, few have focused specifically on Jersey cattle. The objectives of this research included estimating variance components for susceptibility to ketosis and identification of genomic regions associated with ketosis in Jersey cattle. Voluntary producer-recorded health event data related to ketosis were available from Dairy Records Management Systems (Raleigh, NC)...
November 8, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29124980/prenatal-diagnosis-and-molecular-analysis-of-a-large-novel-deletion-js-causing-%C3%AE-0-thalassemia
#14
Jinru Cao, Shuzhen He, Yudong Pu, Jingjing Liu, Fuping Liu, Jun Feng
α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republic of China (PRC), which removes almost the entire α2 and α1 genes from the α-globin gene cluster. Thus, it was named the Jiangsu deletion (- -(JS)) on the α-globin gene cluster causing α(0)-thal...
November 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29123543/can-we-validate-the-results-of-twin-studies-a-census-based-study-on-the-heritability-of-educational-achievement
#15
Inga Schwabe, Luc Janss, Stéphanie M van den Berg
As for most phenotypes, the amount of variance in educational achievement explained by SNPs is lower than the amount of additive genetic variance estimated in twin studies. Twin-based estimates may however be biased because of self-selection and differences in cognitive ability between twins and the rest of the population. Here we compare twin registry based estimates with a census-based heritability estimate, sampling from the same Dutch birth cohort population and using the same standardized measure for educational achievement...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29122631/mitral-valve-prolapse-multimodality-imaging-and-genetic-insights
#16
REVIEW
Purvi Parwani, Jean-Francois Avierinos, Robert A Levine, Francesca Nesta Delling
Mitral valve prolapse (MVP) is a common heritable valvulopathy affecting approximately 2.4% of the population. It is the most important cause of primary mitral regurgitation (MR) requiring surgery. MVP is characterized by fibromyxomatous changes and displacement of one or both mitral leaflets into the left atrium. Echocardiography represents the primary diagnostic modality for assessment of MVP. Accurate quantitation of ventricular volumes and function for surgical planning in asymptomatic severe MR can be provided with both echocardiography and cardiac magnetic resonance ...
November 6, 2017: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/29120338/double-segment-chromosomal-imbalance-due-to-inherited-chromosomal-translocation-detection-by-cytogenetic-microarray
#17
Moni Tuteja, Divya Agarwal, Shubha R Phadke
BACKGROUND: Balanced translocations are common with the incidence of 1 in 500. CASE CHARACTERISTICS: Two cousins with intellectual disability with family history of holoprosencephaly. RESULTS: Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. CONCLUSION: We highlight the importance of detailed family history, pedigree analysis, and utility of microarray.
October 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29119378/population-genetic-structure-of-santa-in%C3%A3%C2%AAs-sheep-in-brazil
#18
Aurino de Araújo Rego Neto, José Lindenberg Rocha Sarmento, Natanael Pereira da Silva Santos, José Elivalto Guimarães Campelo, Luciano Silva Sena, Daniel Biagiotti, Gleyson Vieira Dos Santos
This study aimed to describe the population genetic structure and evaluate the state of conservation of the genetic variability of Santa Inês sheep in Brazil. We used pedigree data of the Santa Inês breed available in electronic processing of the Brazilian Association of Sheep Breeders. A file with 20,206 records, which enabled the calculation of the genetic conservation index (GCI), individual inbreeding coefficient (F), change in inbreeding (ΔF), effective population size (Ne), effective number of founders (ƒe), effective number of ancestors (ƒɑ), generation interval (L), average relatedness coefficient of each individual (AR), and Wright's F-statistics (F IT, F IS, and F ST)...
November 8, 2017: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/29119314/trait-specific-long-term-consequences-of-genomic-selection-in-beef-cattle
#19
Haroldo Henrique de Rezende Neves, Roberto Carvalheiro, Sandra Aidar de Queiroz
Simulation studies allow addressing consequences of selection schemes, helping to identify effective strategies to enable genetic gain and maintain genetic diversity. The aim of this study was to evaluate the long-term impact of genomic selection (GS) in genetic progress and genetic diversity of beef cattle. Forward-in-time simulation generated a population with pattern of linkage disequilibrium close to that previously reported for real beef cattle populations. Different scenarios of GS and traditional pedigree-based BLUP (PBLUP) selection were simulated for 15 generations, mimicking selection for female reproduction and meat quality...
November 8, 2017: Genetica
https://www.readbyqxmd.com/read/29117201/whole-exome-sequencing-in-thrombophilic-pedigrees-to-identify-genetic-risk-factors-for-venous-thromboembolism
#20
Marisa L R Cunha, Joost C M Meijers, Frits R Rosendaal, Astrid van Hylckama Vlieg, Pieter H Reitsma, Saskia Middeldorp
BACKGROUND: Family studies have shown a strong heritability component for venous thromboembolism (VTE), but established genetic risk factors are present in only half of VTE patients. AIM: To identify genetic risk factors in two large families with unexplained hereditary VTE. METHODS: We performed whole exome sequencing in 10 affected relatives of two unrelated families with an unexplained tendency for VTE. We prioritized variants shared by all affected relatives from both families, and evaluated these in the remaining affected and unaffected individuals...
2017: PloS One
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