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https://www.readbyqxmd.com/read/29781541/the-two-rules-of-speciation-in-species-with-young-sex-chromosomes
#1
Dmitry A Filatov
The two "rules of speciation", Haldane's rule (HR) and the large-X effect (LXE), are thought to be caused by recessive species incompatibilities exposed in the phenotype due to the hemizygosity of X-linked genes in the heterogametic sex. Thus, the reports of HR and the LXE in species with recently evolved non- or partially-degenerate Y-chromosomes, such as Silene latifolia and its relatives, were surprising. Here I argue that rapid species-specific degeneration of Y-linked genes and associated adjustment of expression of X-linked gametologs (dosage compensation) may lead to rapid evolution of sex-linked species incompatibilities...
May 21, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29781076/first-trimester-combined-screening-for-fetal-aneuploidies-enhanced-with-additional-ultrasound-markers-an-8-year-prospective-study
#2
Dragos Nemescu, Adina Bratie, Alexandra Mihaila, Dan Navolan, Adina Tanase
OBJECTIVES: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. MATERIAL AND METHODS: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A)...
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29779145/comprehensive-genetic-testing-for-female-and-male-infertility-using-next-generation-sequencing
#3
Bonny Patel, Sasha Parets, Matthew Akana, Gregory Kellogg, Michael Jansen, Chihyu Chang, Ying Cai, Rebecca Fox, Mohammad Niknazar, Roman Shraga, Colby Hunter, Andrew Pollock, Robert Wisotzkey, Malgorzata Jaremko, Alex Bisignano, Oscar Puig
PURPOSE: To develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols. METHODS: We developed a next-generation sequencing (NGS) gene panel consisting of 87 genes including promoters, 5' and 3' untranslated regions, exons, and selected introns. In addition, sex chromosome aneuploidies and Y chromosome microdeletions were analyzed concomitantly using the same panel. RESULTS: The NGS panel was analytically validated by retrospective analysis of 118 genomic DNA samples with known variants in loci representative of female and male infertility...
May 19, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29774458/effects-of-rs591323-on-serotonin-transporter-availability-in-healthy-male-subjects
#4
Kyoungjune Pak, Hyun-Yeol Nam, Seunghyeon Shin, Keunyoung Kim, Myung Jun Lee, Eun-Joo Kim, Jae Meen Lee, Seong-Jang Kim, In Joo Kim
OBJECTIVES: We aimed to investigate the association between genetic factors of SNPs dopamine transporter (DAT) and serotonin transporter (SERT) availabilities in healthy controls. METHODS: The study population consisted of healthy controls with screening 123 I-FP-CIT single-photon emission computed tomography. Specific binding of 123 I-FP-CIT regarding DAT and SERT was calculated using a region of interest analysis. VOI template was applied to measure specific binding ratios (SBRs) of caudate nucleus, putamen, striatum, midbrain, and pons...
May 17, 2018: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/29773953/mir-34a-mediated-regulation-of-xist-in-female-cells-under-inflammation
#5
Botros B Shenoda, Yuzhen Tian, Guillermo M Alexander, Enrique Aradillas-Lopez, Robert J Schwartzman, Seena K Ajit
Background: Evidence is overwhelming for sex differences in pain, with women representing the majority of the chronic pain patient population. There is a need to explore novel avenues to elucidate this sex bias in the development of chronic inflammatory pain conditions. Complex regional pain syndrome (CRPS) is a chronic neuropathic pain disorder, and the incidence of CRPS is greater in women than in men by ~4:1. Since neurogenic inflammation is a key feature of CRPS, dysregulation of inflammatory responses can be a factor in predisposing women to chronic pain...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29769284/dynamic-copy-number-evolution-of-x-and-y-linked-ampliconic-genes-in-human-populations
#6
Elise A Lucotte, Laurits Skov, Jacob Malte Jensen, Moisès Coll Macià, Kasper Munch, Mikkel H Schierup
Ampliconic genes are multicopy, in majority found on sex-chromosomes and enriched for testis-expressed genes. While ampliconic genes have been associated with the emergence of hybrid incompatibilities, we know little about their copy number distribution and their turnover in human populations. Here we explore the evolution of human X- and Y-linked ampliconic genes by investigating copy number variation (CNV) and coding variation between populations using the Simons Genome Diversity Project. We develop a method to assess CNVs using the read-depth on modified X and Y chromosome targets containing only one repetition of each ampliconic gene...
May 16, 2018: Genetics
https://www.readbyqxmd.com/read/29764959/a-targeted-rnai-screen-reveals-drosophila-female-sterile-genes-that-control-the-size-of-germline-stem-cell-niche-during-development
#7
Yueh Cho, Chun-Ming Lai, Kun-Yang Lin, Hwei-Jan Hsu
Adult stem cells maintain tissue homeostasis. This unique capability largely depends on the stem cell niche, a specialized microenvironment, which preserves stem cell identity through physical contacts and secreted factors. In many cancers, latent tumor cell niches are thought to house stem cells and aid tumor initiation. However, in developing tissue and cancer it is unclear how the niche is established. The well-characterized germline stem cells (GSCs) and niches in the Drosophila melanogaster ovary provide an excellent model to address this fundamental issue...
May 15, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29764366/phylogenetic-signal-from-rearrangements-in-18-anopheles-species-by-joint-scaffolding-extant-and-ancestral-genomes
#8
Yoann Anselmetti, Wandrille Duchemin, Eric Tannier, Cedric Chauve, Sèverine Bérard
BACKGROUND: Genomes rearrangements carry valuable information for phylogenetic inference or the elucidation of molecular mechanisms of adaptation. However, the detection of genome rearrangements is often hampered by current deficiencies in data and methods: Genomes obtained from short sequence reads have generally very fragmented assemblies, and comparing multiple gene orders generally leads to computationally intractable algorithmic questions. RESULTS: We present a computational method, ADSEQ, which, by combining ancestral gene order reconstruction, comparative scaffolding and de novo scaffolding methods, overcomes these two caveats...
May 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29762663/population-genomic-data-reveal-genes-related-to-important-traits-of-quail
#9
Yan Wu, Yaolei Zhang, Zhuocheng Hou, Guangyi Fan, Jinsong Pi, Shuai Sun, Jiang Chen, Huaqiao Liu, Xiao Du, Jie Shen, Gang Hu, Wenbin Chen, Ailuan Pan, Pingping Yin, Xiaoli Chen, Yuejin Pu, He Zhang, Zhenhua Liang, Jianbo Jian, Hao Zhang, Bin Wu, Jing Sun, Jianwei Chen, Hu Tao, Ting Yang, Hongwei Xiao, Huan Yang, Chuanwei Zheng, Mingzhou Bai, Xiaodong Fang, David W Burt, Wen Wang, Qingyi Li, Xun Xu, Chengfeng Li, Huanming Yang, Jian Wang, Ning Yang, Xin Liu, Jinping Du
Background: Japanese quail (Coturnix japonica), a recently domesticated poultry species, is important not only as an agricultural product, but also as a model bird species for genetic research. However, most of the biological questions concerning genomics, phylogenetics and genetics of some important economic traits have not been answered. It is thus necessary to complete a high-quality genome sequence as well as a series of comparative genomics, evolution and functional studies. Results: Here, we present a quail genome assembly spanning 1...
May 11, 2018: GigaScience
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#10
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760316/unique-sex-determination-system-in-the-silkworm-bombyx-mori-current-status-and-beyond
#11
Susumu Katsuma, Takashi Kiuchi, Munetaka Kawamoto, Toshiaki Fujimoto, Ken Sahara
The silkworm Bombyx mori has been used for silk production for over 5,000 years. In addition to its contribution to sericulture, B. mori has played an important role in the field of genetics. Classical genetic studies revealed that a gene(s) with a strong feminizing activity is located on the W chromosome, but this W-linked feminizing gene, called Feminizer (Fem), had not been cloned despite more than 80 years of study. In 2014, we discovered that Fem is a precursor of a single W chromosome-derived PIWI-interacting RNA (piRNA)...
2018: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/29756331/mammalian-x-chromosome-dosage-compensation-perspectives-from-the-germ-line
#12
REVIEW
Mahesh N Sangrithi, James M A Turner
Sex chromosomes are advantageous to mammals, allowing them to adopt a genetic rather than environmental sex determination system. However, sex chromosome evolution also carries a burden, because it results in an imbalance in gene dosage between females (XX) and males (XY). This imbalance is resolved by X dosage compensation, which comprises both X chromosome inactivation and X chromosome upregulation. X dosage compensation has been well characterized in the soma, but not in the germ line. Germ cells face a special challenge, because genome wide reprogramming erases epigenetic marks responsible for maintaining the X dosage compensated state...
May 14, 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/29753092/sex-differences-for-major-congenital-heart-defects-in-down-syndrome-a-population-based-study
#13
Michele Santoro, Alessio Coi, Isabella Spadoni, Fabrizio Bianchi, Anna Pierini
BACKGROUND: Down syndrome (DS) is the most common autosomal chromosomal anomaly in liveborn infants. About 40% of infants with DS have a major congenital heart defect (CHD). Among them, atrioventricular septal defects (AVSD), atrial septal defects (ASD), ventricular septal defect (VSD) and Tetralogy of Fallot (ToF) are the most common. The aim of this study was to estimate the sex difference in the occurrence of CHD in infants with DS comparing it with non-DS infants. METHOD: Live birth cases of DS diagnosed by the first year of life were extracted from the Registry of Congenital Anomalies of Tuscany (2003-2015 period)...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29751579/did-lizards-follow-unique-pathways-in-sex-chromosome-evolution
#14
REVIEW
Shayer Mahmood Ibney Alam, Stephen D Sarre, Dianne Gleeson, Arthur Georges, Tariq Ezaz
Reptiles show remarkable diversity in modes of reproduction and sex determination, including high variation in the morphology of sex chromosomes, ranging from homomorphic to highly heteromorphic. Additionally, the co-existence of genotypic sex determination (GSD) and temperature-dependent sex determination (TSD) within and among sister clades makes this group an attractive model to study and understand the evolution of sex chromosomes. This is particularly so with Lizards (Order Squamata) which, among reptiles, show extraordinary morphological diversity...
May 3, 2018: Genes
https://www.readbyqxmd.com/read/29751570/shared-and-species-specific-patterns-of-nascent-y-chromosome-evolution-in-two-guppy-species
#15
Jake Morris, Iulia Darolti, Natasha I Bloch, Alison E Wright, Judith E Mank
Sex chromosomes form once recombination is halted around the sex-determining locus between a homologous pair of chromosomes, resulting in a male-limited Y chromosome. We recently characterized the nascent sex chromosome system in the Trinidadian guppy ( Poecilia reticulata ). The guppy Y is one of the youngest animal sex chromosomes yet identified, and therefore offers a unique window into the early evolutionary forces shaping sex chromosome formation, particularly the rate of accumulation of repetitive elements and Y-specific sequence...
May 3, 2018: Genes
https://www.readbyqxmd.com/read/29751562/the-colorful-sex-chromosomes-of-teleost-fish
#16
REVIEW
Verena A Kottler, Manfred Schartl
Teleost fish provide some of the most intriguing examples of sexually dimorphic coloration, which is often advantageous for only one of the sexes. Mapping studies demonstrated that the genetic loci underlying such color patterns are frequently in tight linkage to the sex-determining locus of a species, ensuring sex-specific expression of the corresponding trait. Several genes affecting color synthesis and pigment cell development have been previously described, but the color loci on the sex chromosomes have mostly remained elusive as yet...
May 3, 2018: Genes
https://www.readbyqxmd.com/read/29751495/a-comparison-of-selective-pressures-in-plant-x-linked-and-autosomal-genes
#17
Marc Krasovec, Bruno Nevado, Dmitry A Filatov
Selection is expected to work differently in autosomal and X-linked genes because of their ploidy difference and the exposure of recessive X-linked mutations to haploid selection in males. However, it is not clear whether these expectations apply to recently evolved sex chromosomes, where many genes retain functional X- and Y-linked gametologs. We took advantage of the recently evolved sex chromosomes in the plant Silene latifolia and its closely related species to compare the selective pressures between hemizygous and non-hemizygous X-linked genes as well as between X-linked genes and autosomal genes...
May 3, 2018: Genes
https://www.readbyqxmd.com/read/29744390/stage-1-registered-report-variation-in-neurodevelopmental-outcomes-in-children-with-sex-chromosome-trisomies-protocol-for-a-test-of-the-double-hit-hypothesis
#18
Dianne F Newbury, Nuala H Simpson, Paul A Thompson, Dorothy V M Bishop
Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. Group averages, however, obscure a wide range of outcomes. Hypothesis: The 'double hit' hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. Neuroligin-4 genes are expressed from X and Y chromosomes; they play an important role in synaptic development and have been implicated in neurodevelopment...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29743610/sex-specific-glioma-genome-wide-association-study-identifies-new-risk-locus-at-3p21-31-in-females-and-finds-sex-differences-in-risk-at-8q24-21
#19
Quinn T Ostrom, Ben Kinnersley, Margaret R Wrensch, Jeanette E Eckel-Passow, Georgina Armstrong, Terri Rice, Yanwen Chen, John K Wiencke, Lucie S McCoy, Helen M Hansen, Christopher I Amos, Jonine L Bernstein, Elizabeth B Claus, Dora Il'yasova, Christoffer Johansen, Daniel H Lachance, Rose K Lai, Ryan T Merrell, Sara H Olson, Siegal Sadetzki, Joellen M Schildkraut, Sanjay Shete, Joshua B Rubin, Justin D Lathia, Michael E Berens, Ulrika Andersson, Preetha Rajaraman, Stephen J Chanock, Martha S Linet, Zhaoming Wang, Meredith Yeager, Richard S Houlston, Robert B Jenkins, Beatrice Melin, Melissa L Bondy, Jill S Barnholtz-Sloan
Incidence of glioma is approximately 50% higher in males. Previous analyses have examined exposures related to sex hormones in women as potential protective factors for these tumors, with inconsistent results. Previous glioma genome-wide association studies (GWAS) have not stratified by sex. Potential sex-specific genetic effects were assessed in autosomal SNPs and sex chromosome variants for all glioma, GBM and non-GBM patients using data from four previous glioma GWAS. Datasets were analyzed using sex-stratified logistic regression models and combined using meta-analysis...
May 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29742167/canine-leishmaniasis-genome-wide-analysis-and-antibody-response-to-lutzomyia-longipalpis-saliva
#20
Luís F S Batista, Yuri T Utsunomiya, Thaís B F Silva, Mariana M Carneiro, Joyr S F Paiva, Rafaela B Silva, Thaíse Y Tomokane, Claudio N Rossi, Acácio D Pacheco, Rafaela B P Torrecilha, Fernando T Silveira, Mary Marcondes, Cáris M Nunes, Márcia D Laurenti
The anti-inflammatory properties of sand fly saliva favor the establishment of the Leishmania infantum infection. In contrast, an antibody response against Lutzomyia longipalpis saliva is often associated with a protective cell-mediated response against canine visceral leishmaniasis. Genetic studies may demonstrate to what extent the ability to secrete anti-saliva antibodies depends on genetic or environmental factors. However, the genetic basis of canine antibody response against sand fly saliva has not been assessed...
2018: PloS One
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