81 results match your criteria face segregating


Evidence for anaphase pulling forces during C. elegans meiosis.

J Cell Biol 2020 12;219(12)

Department of Molecular and Cellular Biology, University of California, Davis, Davis, CA.

Anaphase chromosome movement is thought to be mediated by pulling forces generated by end-on attachment of microtubules to the outer face of kinetochores. However, it has been suggested that during C. elegans female meiosis, anaphase is mediated by a kinetochore-independent pushing mechanism with microtubules only attached to the inner face of segregating chromosomes. Read More

View Article and Full-Text PDF
December 2020

Parallel Processing of Facial Expression and Head Orientation in the Macaque Brain.

J Neurosci 2020 10 14;40(42):8119-8131. Epub 2020 Sep 14.

Laboratory of Brain and Cognition, National Institute of Mental Health, Bethesda, Maryland 20814.

When we move the features of our face, or turn our head, we communicate changes in our internal state to the people around us. How this information is encoded and used by an observer's brain is poorly understood. We investigated this issue using a functional MRI adaptation paradigm in awake male macaques. Read More

View Article and Full-Text PDF
October 2020

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.

Eur J Med Genet 2020 May 19;63(5):103918. Epub 2020 Mar 19.

Department of Ophthalmology, Children Hospital Queen Fabiola, Brussels, Belgium; Department of Ophthalmology, Ghent University Hospital, Belgium; Department of Ophthalmology, Leuven University Hospital, Belgium. Electronic address:

Congenital microcoria (MCOR) is an eye anomaly characterized by a pupil with diameter below 2 mm, and is caused by underdevelopment or absence of the dilator muscle of the pupil. Two types have been described: a recessive, syndromic (Pierson syndrome OMIM 609049) and a dominant, isolated form (MCOR syndrome OMIM 156600). Fares-Taie and colleagues described inherited microdeletions in chromosome band 13q32. Read More

View Article and Full-Text PDF

Predicting the Landscape of Recombination Using Deep Learning.

Mol Biol Evol 2020 06;37(6):1790-1808

Institute of Ecology and Evolution, University of Oregon, Eugene, OR.

Accurately inferring the genome-wide landscape of recombination rates in natural populations is a central aim in genomics, as patterns of linkage influence everything from genetic mapping to understanding evolutionary history. Here, we describe recombination landscape estimation using recurrent neural networks (ReLERNN), a deep learning method for estimating a genome-wide recombination map that is accurate even with small numbers of pooled or individually sequenced genomes. Rather than use summaries of linkage disequilibrium as its input, ReLERNN takes columns from a genotype alignment, which are then modeled as a sequence across the genome using a recurrent neural network. Read More

View Article and Full-Text PDF

Microbiota fingerprints within the oral cavity of cetaceans as indicators for population biomonitoring.

Sci Rep 2019 09 23;9(1):13679. Epub 2019 Sep 23.

Department of Biology and Centre for Molecular and Environmental Biology (CBMA), University of Minho, Campus de Gualtar, 4710-087, Braga, Portugal.

The composition of mammalian microbiota has been related with the host health status. In this study, we assessed the oral microbiome of 3 cetacean species most commonly found stranded in Iberian Atlantic waters (Delphinus delphis, Stenella coeruleoalba and Phocoena phocoena), using 16S rDNA-amplicon metabarcoding. All oral microbiomes were dominated by Proteobacteria, Firmicutes, Bacteroidetes and Fusobacteria bacteria, which were also predominant in the oral cavity of Tursiops truncatus. Read More

View Article and Full-Text PDF
September 2019

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy.

Mol Genet Genomic Med 2019 11 5;7(11):e924. Epub 2019 Sep 5.

The Ohio State University Wexner Medical Center, Columbus, Ohio.

Background: Pathogenic variants in TTN (OMIM 188840), encoding the largest human protein, are known to cause dilated cardiomyopathy and several forms of skeletal myopathy. The clinical interpretation of TTN variants is challenging, however, due to the frequency of missense changes, variable testing and reporting practices in commercial laboratories, and incomplete understanding of the spectrum of TTN-related disease.

Methods: We report a heterozygous TTN deletion segregating in a family with an unusual skeletal myopathy phenotype associated with facial weakness, gait abnormality, and dilated cardiomyopathy. Read More

View Article and Full-Text PDF
November 2019

A Nonsense Variant in Golden Retrievers with Congenital Eye Malformations.

Genes (Basel) 2019 06 14;10(6). Epub 2019 Jun 14.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

Causative genetic variants for more than 30 heritable eye disorders in dogs have been reported. For other clinically described eye disorders, the genetic cause is still unclear. We investigated four Golden Retriever litters segregating for highly variable congenital eye malformations. Read More

View Article and Full-Text PDF

Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle.

BMC Genet 2019 01 29;20(1):15. Epub 2019 Jan 29.

Center for Quantitative Genetics and Genomics, Department of Molecular Biology and Genetics, Aarhus University, 8830, Tjele, Denmark.

Background: Genome-wide association studies (GWAS) have been successfully implemented in cattle research and breeding. However, moving from the associations to identify the causal variants and reveal underlying mechanisms have proven complicated. In dairy cattle populations, we face a challenge due to long-range linkage disequilibrium (LD) arising from close familial relationships in the studied individuals. Read More

View Article and Full-Text PDF
January 2019

Major QTL controls adaptation to serpentine soils in Mimulus guttatus.

Mol Ecol 2018 12 18;27(24):5073-5087. Epub 2018 Dec 18.

Department of Biology, Duke University, Durham, North Carolina.

Spatially varying selection is a critical driver of adaptive differentiation. Yet, there are few examples where the fitness effects of naturally segregating variants that contribute to local adaptation have been measured in the field. Plant adaptation to harsh soil habitats provides an ideal study system for investigating the genetic basis of local adaptation. Read More

View Article and Full-Text PDF
December 2018

Changes in the Gut Microbiota of Urban Subjects during an Immersion in the Traditional Diet and Lifestyle of a Rainforest Village.

mSphere 2018 08 29;3(4). Epub 2018 Aug 29.

Department of Medicine, New York University Langone Medical Center, New York, New York, USA

People living traditional lifestyles have higher gut microbiota diversity than urban subjects. We hypothesized that shifting lifestyles from an urban environment to a traditional rainforest village would lead to changes in the microbiota of visitors, which would become more similar to the microbiota of villagers. Here, we characterized at different time points the microbiota of 7 urban visitors (5 adults and 2 children) staying in a rainforest Amerindian village for 16 days and compared them with a reference collection of samples from age-matched local villagers. Read More

View Article and Full-Text PDF

Audiovisual Temporal Perception in Aging: The Role of Multisensory Integration and Age-Related Sensory Loss.

Front Hum Neurosci 2018 9;12:192. Epub 2018 May 9.

Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, VIC, Australia.

Within each sensory modality, age-related deficits in temporal perception contribute to the difficulties older adults experience when performing everyday tasks. Since perceptual experience is inherently multisensory, older adults also face the added challenge of appropriately integrating or segregating the auditory and visual cues present in our dynamic environment into coherent representations of distinct objects. As such, many studies have investigated how older adults perform when integrating temporal information across audition and vision. Read More

View Article and Full-Text PDF

Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle.

BMC Genet 2018 05 11;19(1):30. Epub 2018 May 11.

Center for Quantitative Genetics and Genomics, Department of Molecular Biology and Genetics, Aarhus University, 8830, Tjele, Denmark.

Background: Genome-wide association studies (GWAS) have been successfully implemented in cattle research and breeding. However, moving from the associations to identifying the causal variants and revealing underlying mechanisms have proven complicated. In dairy cattle populations, we face a challenge due to long-range linkage disequilibrium (LD) arising from close familial relationships in the studied individuals. Read More

View Article and Full-Text PDF

A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis.

Anim Genet 2018 Apr 9;49(2):137-140. Epub 2018 Feb 9.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.

Hereditary nasal parakeratosis (HNPK), described in the Labrador Retriever breed, is a monogenic autosomal recessive disorder that causes crusts and fissures on the nasal planum of otherwise healthy dogs. Our group previously showed that this genodermatosis may be caused by a missense variant located in the SUV39H2 gene encoding a histone 3 lysine 9 methyltransferase, a chromatin modifying enzyme with a potential role in keratinocyte differentiation. In the present study, we investigated a litter of Greyhounds in which six out of eight puppies were affected with parakeratotic lesions restricted to the nasal planum. Read More

View Article and Full-Text PDF

Functional analysis after rapid degradation of condensins and 3D-EM reveals chromatin volume is uncoupled from chromosome architecture in mitosis.

J Cell Sci 2018 02 22;131(4). Epub 2018 Feb 22.

Wellcome Centre for Cell Biology, University of Edinburgh, King's Buildings, Max Born Crescent, Edinburgh EH9 3BF, Scotland, UK

The requirement for condensin in chromosome formation in somatic cells remains unclear, as imperfectly condensed chromosomes do form in cells depleted of condensin by conventional methodologies. In order to dissect the roles of condensin at different stages of vertebrate mitosis, we have established a versatile cellular system that combines auxin-mediated rapid degradation with chemical genetics to obtain near-synchronous mitotic entry of chicken DT40 cells in the presence and absence of condensin. We analyzed the outcome by live- and fixed-cell microscopy methods, including serial block face scanning electron microscopy with digital reconstruction. Read More

View Article and Full-Text PDF
February 2018

Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.

Cytogenet Genome Res 2017 20;153(2):73-80. Epub 2017 Dec 20.

Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Rearrangements of the region 1q42.13q43 are rare, with only 7 cases reported to date. The imbalances described are usually the result of inherited translocations with other chromosomes. Read More

View Article and Full-Text PDF
February 2018

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

J Hum Genet 2018 Jan 16;63(1):97-100. Epub 2017 Nov 16.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.

Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid nasal tip, broad columella, widely separated nares, long and wide philtrum and V-shaped hairline. Sometimes these phenotypes are associated with ptosis and midline dermoid cysts. Frontorhiny inherits in an autosomal recessive pattern. Read More

View Article and Full-Text PDF
January 2018

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Am J Med Genet A 2017 Apr;173(4):938-945

Centro de Pesquisas Sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Read More

View Article and Full-Text PDF

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

Am J Med Genet A 2017 Jan 7;173(1):183-189. Epub 2016 Nov 7.

Division of Medical Genetics, Department of Pediatrics, London Health Sciences Centre, Western University, London, Ontario, Canada.

Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. Read More

View Article and Full-Text PDF
January 2017

Pleiotropy, constraint, and modularity in the evolution of life histories: insights from genomic analyses.

Ann N Y Acad Sci 2017 02 9;1389(1):76-91. Epub 2016 Dec 9.

Department of Biological Sciences, University of Maryland, Baltimore County, Baltimore, Maryland.

Multicellular organisms display an enormous range of life history (LH) strategies and present an evolutionary conundrum; despite strong natural selection, LH traits are characterized by high levels of genetic variation. To understand the evolution of life histories and maintenance of this variation, the specific phenotypic effects of segregating alleles and the genetic networks in which they act need to be elucidated. In particular, the extent to which LH evolution is constrained by the pleiotropy of alleles contributing to LH variation is generally unknown. Read More

View Article and Full-Text PDF
February 2017

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Epilepsy Res 2016 12 25;128:48-51. Epub 2016 Oct 25.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in a single family segregating a balanced translocation with a breakpoint in this X chromosome gene, predicting a partial knockout involving 3 of 5 known FGF13 isoforms. Investigation of a mouse model of complete Fgf13 knock-out revealed increased susceptibility to hyperthermia-induced seizures and epilepsy. Here we investigated whether mutation of FGF13 would explain other cases of GEFS+ compatible with X-linked inheritance. Read More

View Article and Full-Text PDF
December 2016

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Clin Genet 2017 03 12;91(3):494-498. Epub 2016 Jul 12.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Frontonasal dysplasia (FND) is a heterogeneous group of disorders characterized by hypertelorism, telecanthus, broad nasal root, wide prominent nasal bridge, short and wide nasal ridge, broad columella and smooth philtrum. To date one X-linked and three autosomal recessive forms of FND have been reported in different ethnic groups. We sought to identify the gene responsible for FND in a consanguineous Pakistani family segregating the disorder in autosomal recessive pattern. Read More

View Article and Full-Text PDF

Four not six: Revealing culturally common facial expressions of emotion.

J Exp Psychol Gen 2016 Jun 14;145(6):708-30. Epub 2016 Apr 14.

Institute of Neuroscience and Psychology, University of Glasgow.

As a highly social species, humans generate complex facial expressions to communicate a diverse range of emotions. Since Darwin's work, identifying among these complex patterns which are common across cultures and which are culture-specific has remained a central question in psychology, anthropology, philosophy, and more recently machine vision and social robotics. Classic approaches to addressing this question typically tested the cross-cultural recognition of theoretically motivated facial expressions representing 6 emotions, and reported universality. Read More

View Article and Full-Text PDF

A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.

Dis Model Mech 2016 05 17;9(5):585-96. Epub 2016 Mar 17.

Department of Anatomy, Biochemistry, and Physiology, John A. Burns School of Medicine, University of Hawai'i, Honolulu, HI 96813, USA.

Genetic variations affecting neural tube closure along the head result in malformations of the face and brain. Neural tube defects (NTDs) are among the most common birth defects in humans. We previously reported a mouse mutant called tuft that arose spontaneously in our wild-type 3H1 colony. Read More

View Article and Full-Text PDF

The Hierarchical Structure of the Face Network Revealed by Its Functional Connectivity Pattern.

J Neurosci 2016 Jan;36(3):890-900

School of Psychology, Beijing Normal University, Beijing, 100875, China, and

A major principle of human brain organization is "integrating" some regions into networks while "segregating" other sets of regions into separate networks. However, little is known about the cognitive function of the integration and segregation of brain networks. Here, we examined the well-studied brain network for face processing, and asked whether the integration and segregation of the face network (FN) are related to face recognition performance. Read More

View Article and Full-Text PDF
January 2016

Did Neoliberalizing West African Forests Produce a New Niche for Ebola?

Int J Health Serv 2016 17;46(1):149-65. Epub 2015 Nov 17.

Division of Epidemiology, The New York State Psychiatric Institute, New York, NY, USA.

A recent study introduced a vaccine that controls Ebola Makona, the Zaire ebolavirus variant that has infected 28,000 people in West Africa. We propose that even such successful advances are insufficient for many emergent diseases. We review work hypothesizing that Makona, phenotypically similar to much smaller outbreaks, emerged out of shifts in land use brought about by neoliberal economics. Read More

View Article and Full-Text PDF

A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.

Am J Med Genet A 2016 Feb 18;170A(2):487-491. Epub 2015 Nov 18.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics. University of Cincinnati College of Medicine, Cincinnati, Ohio.

The frontonasal dysplasias are a group of craniofacial phenotypes characterized by hypertelorism, nasal clefting, frontal bossing, and abnormal hairline. These conditions are caused by recessive mutations in members of the aristaless gene family, resulting in abnormal cranial neural crest migration and differentiation. We report a family with a dominantly inherited craniofacial phenotype comprised of frontal bossing with high hairline, ptosis, hypertelorism, broad nasal tip, large anterior fontanelle, cranial base anomalies, and sagittal synostosis. Read More

View Article and Full-Text PDF
February 2016

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.

PLoS One 2015 10;10(7):e0132529. Epub 2015 Jul 10.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, United States of America.

Primary open-angle glaucoma (POAG) is a clinically important and genetically heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death. Here we have utilized trio-based, whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of adult-onset POAG segregating in an African-American family. Exome sequencing identified a novel missense variant (c. Read More

View Article and Full-Text PDF

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.

J Med Genet 2015 Sep 3;52(9):599-606. Epub 2015 Jul 3.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Uppsala, Sweden.

Background: Keratosis pilaris atrophicans (KPA) is a group of rare genodermatoses characterised by perifollicular keratosis and inflammation that progresses to atrophy and scars of the facial skin. Keratosis pilaris of extensor areas of limbs is a common associated finding. Most cases with KPA are sporadic and no consistent inheritance pattern has been documented. Read More

View Article and Full-Text PDF
September 2015

Centromere pairing--tethering partner chromosomes in meiosis I.

FEBS J 2015 Jul 13;282(13):2458-70. Epub 2015 Apr 13.

Program in Cell Cycle and Cancer Biology, Oklahoma Medical Research Foundation, and Department of Cell Biology, University of Oklahoma, Health Science Center, OK, USA.

In meiosis, homologous chromosomes face the obstacle of finding, holding onto and segregating away from their partner chromosome. There is increasing evidence, in a diverse range of organisms, that centromere-centromere interactions that occur in late prophase are an important mechanism in ensuring segregation fidelity. Centromere pairing appears to initiate when homologous chromosomes synapse in meiotic prophase. Read More

View Article and Full-Text PDF

Testing the generalist-specialist dilemma: the role of pyrrolizidine alkaloids in resistance to invertebrate herbivores in Jacobaea species.

J Chem Ecol 2015 Feb 11;41(2):159-67. Epub 2015 Feb 11.

Plant Ecology and Phytochemistry, Institute of Biology, Leiden University, Sylviusweg 72, P.O. Box 9505, 2300 RA, Leiden, The Netherlands,

Plants produce a diversity of secondary metabolites (SMs) to protect them from generalist herbivores. On the other hand, specialist herbivores use SMs for host plant recognition, feeding and oviposition cues, and even sequester SMs for their own defense. Therefore, plants are assumed to face an evolutionary dilemma stemming from the contrasting effects of generalist and specialist herbivores on SMs. Read More

View Article and Full-Text PDF
February 2015