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31.
Albart Coster John WM Bastiaansen Mario PL Calus Johan AM van Arendonk Henk Bovenhuis 《遗传、选种与进化》2010,42(1):9
The objective of this simulation study was to compare the effect of the number of QTL and distribution of QTL variance on the accuracy of breeding values estimated with genomewide markers (MEBV). Three distinct methods were used to calculate MEBV: a Bayesian Method (BM), Least Angle Regression (LARS) and Partial Least Square Regression (PLSR). The accuracy of MEBV calculated with BM and LARS decreased when the number of simulated QTL increased. The accuracy decreased more when QTL had different variance values than when all QTL had an equal variance. The accuracy of MEBV calculated with PLSR was affected neither by the number of QTL nor by the distribution of QTL variance. Additional simulations and analyses showed that these conclusions were not affected by the number of individuals in the training population, by the number of markers and by the heritability of the trait. Results of this study show that the effect of the number of QTL and distribution of QTL variance on the accuracy of MEBV depends on the method that is used to calculate MEBV. 相似文献
32.
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 下载免费PDF全文
Anas M. Alazami Amr Al-Saif Abdulaziz Al-Semari Saeed Bohlega Soumaya Zlitni Fatema Alzahrani Prashant Bavi Namik Kaya Dilek Colak Hanif Khalak Andy Baltus Borut Peterlin Sumita Danda Kailash P. Bhatia Susanne A. Schneider Nadia Sakati Christopher A. Walsh Futwan Al-Mohanna Brian Meyer Fowzan S. Alkuraya 《American journal of human genetics》2008,83(6):684-691
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease. Our findings expand the list of human disorders linked to the nucleolus and further highlight the developmental and/or maintenance functions of this organelle. 相似文献
33.
Fragmented and scrambled mitochondrial ribosomal RNA coding regions among green algae: a model for their origin and evolution 总被引:4,自引:1,他引:3
Mitochondrial ribosomal RNA coding regions in the only three green algal
taxa investigated to date are fundamentally different in that they are
continuous in Prototheca wickerhamii, but highly fragmented and scrambled
in Chlamydomonas reinhardtii and Chlamydomonas eugametos. To gain more
insight into the mode of evolution of fragmented and scrambled
mitochondrial ribosomal RNA (rRNA) genes within the green algal group, this
work (1) provides additional information on fragmentation patterns of
mitochondrial small- and large-subunit (SSU and LSU) rRNAs that strongly
supports the concept of a gradual increase in the extent of discontinuity
of mitochondrial rRNAs among chlorophycean green algae and (2) reports the
first example of fragmented and scrambled mitochondrial LSU rRNA coding
regions in a green algal taxon outside the Chlamydomonas group. The present
study (1) suggests that the scrambling of the mitochondrial rRNA coding
regions may have occurred early in the evolution of fragmented and
scrambled mitochondrial rRNA genes within the chlorophycean green algal
group, most likely in parallel with the fragmentation events, (2) proposes
recombination as a possible mechanism involved in the evolution of these
mitochondrial rRNA genes, and (3) presents a hypothetical pathway for
converting continuous mitochondrial rRNA genes into the highly fragmented
and scrambled rRNA coding regions of Chlamydomonas through a series of
recombinatorial events between short repeated sequences.
相似文献
34.
Anas M. Alazami Sarah M. Al-Qattan Eissa Faqeih Amal Alhashem Muneera Alshammari Fatema Alzahrani Mohammed S. Al-Dosari Nisha Patel Afaf Alsagheir Bassam Binabbas Hamad Alzaidan Abdulmonem Alsiddiky Nasser Alharbi Majid Alfadhel Amal Kentab Riza M. Daza Martin Kircher Jay Shendure Mais Hashem Saif Alshahrani Zuhair Rahbeeni Ola Khalifa Ranad Shaheen Fowzan S. Alkuraya 《Human genetics》2016,135(5):525-540
35.
Jifeng Tang Samantha J Baldwin Jeanne ME Jacobs C Gerard van der Linden Roeland E Voorrips Jack AM Leunissen Herman van Eck Ben Vosman 《BMC bioinformatics》2008,9(1):374
Background
Simple Sequence Repeat (SSR) or microsatellite markers are valuable for genetic research. Experimental methods to develop SSR markers are laborious, time consuming and expensive. In silico approaches have become a practicable and relatively inexpensive alternative during the last decade, although testing putative SSR markers still is time consuming and expensive. In many species only a relatively small percentage of SSR markers turn out to be polymorphic. This is particularly true for markers derived from expressed sequence tags (ESTs). In EST databases a large redundancy of sequences is present, which may contain information on length-polymorphisms in the SSR they contain, and whether they have been derived from heterozygotes or from different genotypes. Up to now, although a number of programs have been developed to identify SSRs in EST sequences, no software can detect putatively polymorphic SSRs. 相似文献36.
Jeanine A Verbunt Henk AM Seelen Feljandro P Ramos Bernard HM Michielsen Wim L Wetzelaer Martine Moennekens 《BMC neurology》2008,8(1):7
Background
Over 50% of patients with upper limb paresis resulting from stroke face long-term impaired arm function and ensuing disability in daily life. Unfortunately, the number of effective treatments aimed at improving arm function due to stroke is still low. This study aims to evaluate a new therapy for improving arm function in sub-acute stroke patients based on mental practice theories and functional task-oriented training, and to study the predictors for a positive treatment result. It is hypothesized that a six-week, mental practice-based training program (additional to regular therapy) targeting the specific upper extremity skills important to the individual patient will significantly improve both arm function and daily activity performance, as well as being cost effective. 相似文献37.
Anas M. Alazami Fatema Alzahrani Anand Saggar Prashant Bavi Fowzan S. Alkuraya 《American journal of human genetics》2009,85(3):414-418
An autosomal-recessive syndrome of bifid nose and anorectal and renal anomalies (BNAR) was previously reported in a consanguineous Egyptian sibship. Here, we report the results of linkage analysis, on this family and on two other families with a similar phenotype, which identified a shared region of homozygosity on chromosome 9p22.2-p23. Candidate-gene analysis revealed homozygous frameshift and missense mutations in FREM1, which encodes an extracellular matrix component of basement membranes. In situ hybridization experiments demonstrated gene expression of Frem1 in the midline of E11.5 mouse embryos, in agreement with the observed cleft nose phenotype of our patients. FREM1 is part of a ternary complex that includes FRAS1 and FREM2, and mutations of the latter two genes have been reported to cause Fraser syndrome in mice and humans. The phenotypic variability previously reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of BNAR in humans may represent a previously unrecognized variant of Fraser syndrome. 相似文献
38.
39.
Seppo AM Saari Kirsi H Juuti Joanna H Palojärvi Kirsi M Väisänen Riitta-Liisa Rajaniemi Leena E Saijonmaa-Koulumies 《Acta veterinaria Scandinavica》2009,51(1):40
Background
Demodex gatoi is unique among demodectic mites. It possesses a distinct stubby appearance, and, instead of residing in the hair follicles, it dwells in the keratin layer of the epidermis, causing a pruritic and contagious skin disease in cats. Little is known of the occurrence of D. gatoi in Europe or control of D. gatoi infestation. 相似文献40.
Juan Manuel Herrero-Medrano Hendrik-Jan Megens Martien AM Groenen Mirte Bosse Miguel Pérez-Enciso Richard PMA Crooijmans 《BMC genomics》2014,15(1)