keyword
MENU ▼
Read by QxMD icon Read
search

Sex chromosomes

keyword
https://www.readbyqxmd.com/read/28333849/autism-spectrum-disorder-in-males-with-sex-chromosome-aneuploidy-xxy-klinefelter-syndrome-xyy-and-xxyy
#1
Nicole R Tartaglia, Rebecca Wilson, Judith S Miller, Jessica Rafalko, Lisa Cordeiro, Shanlee Davis, David Hessl, Judith Ross
OBJECTIVE: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA. METHODS: Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28333213/x-chromosome-wide-association-study-identifies-a-susceptibility-locus-for-inflammatory-bowel-disease-in-koreans
#2
Ho-Su Lee, Hyunjung Oh, Jiwon Baek, Seulgi Jung, Myunghee Hong, Kyung Mo Kim, Hyoung Doo Shin, Kyung-Jo Kim, Sang Hyoung Park, Byong Duk Ye, Buhm Han, Suk-Kyun Yang, Kyuyoung Song
Background and Aims: Genome-wide association studies of inflammatory bowel disease identified >200 susceptibility loci only in autosomes. This study aimed to identify inflammatory bowel disease susceptibility loci on the X chromosome. Methods: We performed an X chromosome-wide association study in Korean patients with inflammatory bowel disease. We analyzed X chromosome data from our recent genome-wide association studies, including 1,505 cases (922 Crohn's disease and 583 ulcerative colitis) and 4,041 controls during the discovery phase, followed by replication in additional 1,989 cases (993 Crohn's disease, 996 ulcerative colitis) and 3,491 controls...
February 22, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28332632/loss-of-chromosome-y-leads-to-down-regulation-of-kdm5d-and-kdm6c-epigenetic-modifiers-in-clear-cell-renal-cell-carcinoma
#3
Madeleine Arseneault, Jean Monlong, Naveen S Vasudev, Ruhina S Laskar, Maryam Safisamghabadi, Patricia Harnden, Lars Egevad, Nazanin Nourbehesht, Pudchalaluck Panichnantakul, Ivana Holcatova, Antonin Brisuda, Vladimir Janout, Helena Kollarova, Lenka Foretova, Marie Navratilova, Dana Mates, Viorel Jinga, David Zaridze, Anush Mukeria, Pouria Jandaghi, Paul Brennan, Alvis Brazma, Jorg Tost, Ghislaine Scelo, Rosamonde E Banks, Mark Lathrop, Guillaume Bourque, Yasser Riazalhosseini
Recent genomic studies of sporadic clear cell renal cell carcinoma (ccRCC) have uncovered novel driver genes and pathways. Given the unequal incidence rates among men and women (male:female incidence ratio approaches 2:1), we compared the genome-wide distribution of the chromosomal abnormalities in both sexes. We observed a higher frequency for the somatic recurrent chromosomal copy number variations (CNVs) of autosomes in male subjects, whereas somatic loss of chromosome X was detected exclusively in female patients (17...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28331810/juvenile-granulosa-cell-tumor-of-the-testicle-report-of-a-neonatal-case-with-positive-alpha-fetoprotein-immunohistochemical-staining
#4
Melissa Dundas, Mark Horowitz, Richard Sidlow
We report on a case of juvenile granulosa cell tumor of the testicle in a neonate, a rare testicular tumor in children. No genital ambiguity, anatomic abnormalities, nor sex chromosome aneuploidy was noted in this patient. In our case, despite positive staining for alpha-fetoprotein which is most consistent with yolk sac tumors, all clinical, gross anatomic, histologic, and other immunohistologic characteristics of the tumor remained consistent with the diagnosis of juvenile granulosa cell tumor. The alpha-fetoprotein positivity of the tumor remains unexplained...
May 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28329743/multicolor-spectral-analyses-of-mitotic-and-meiotic-mouse-chromosomes-involved-in-multiple-robertsonian-translocations-ii-the-nmri-cd-and-cd-ta-hybrid-strains
#5
Michael Schmid, Claus Steinlein, Heinz Winking
Multicolor spectral analyses (spectral karyotyping) were performed on mitotic chromosomes of NMRI, CD, and TA mice and on male meiotic chromosomes (diakineses) of NMRI/CD and CD/TA hybrids. All chromosomes, including the various centric (robertsonian) fusions, could be unequivocally identified. Apart from the robertsonian translocations, which were previously detected by conventional banding analyses, no other interchromosomal rearrangements were found in these mice. In both the CD and TA mice, the autosomes 19 and the XY sex chromosomes are not involved in robertsonian translocations...
March 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28329013/the-origin-of-b-chromosomes-in-yellow-necked-mice-apodemus-flavicollis-break-rules-but-keep-playing-the-game
#6
M Rajičić, S A Romanenko, T V Karamysheva, J Blagojević, T Adnađević, I Budinski, A S Bogdanov, V A Trifonov, N B Rubtsov, M Vujošević
B chromosomes (Bs) are known for more than hundred years but their origin, structure and pattern of evolution are not well understood. In the past few years new methodological approaches, involving isolation of Bs followed by whole DNA amplification, DNA probe generation, and fluorescent in situ hybridization (FISH) or the B chromosome DNA sequencing, has allowed detailed analysis of their origin and molecular structure in different species. In this study we explored the origin of Bs in the yellow-necked wood mouse, Apodemus flavicollis, using generation of microdissected DNA probes followed by FISH on metaphase chromosomes...
2017: PloS One
https://www.readbyqxmd.com/read/28326696/history-of-research-on-c-elegans-and-other-free-living-nematodes-as-model-organisms
#7
Victor Marc Nigon, Marie-Anne Félix
The nematode Caenorhabditis elegans is now a major model organism in biology. The choice of Sydney Brenner to adopt this species in the mid-1960s and the success of his team in raising it to a model organism status have been told (http://www.wormbook.org/toc_wormhistory.html; Brenner, 2001; Ankeny, 2001). Here we review the pre-Brenner history of the use of free-living nematodes as models for general questions in biology. We focus on the period that started in 1899 with the first publication of Emile Maupas mentioning Rhabditis elegans and ended in 1974 with the first publications by Brenner...
March 21, 2017: WormBook: the Online Review of C. Elegans Biology
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#8
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28323193/spread-of-a-new-c-trachomatis-variant-from-men-who-have-sex-with-men-to-the-heterosexual-population-after-the-replacement-and-recombination-in-ompa-and-pmph-genes
#9
Mario Rodríguez-Domínguez, José María González-Alba, Teresa Puerta, Laura Martínez-García, Blanca Menéndez, Rafael Cantón, Jorge Del Romero, Juan Carlos Galán
OBJECTIVES: Sexually transmitted infections are frequently related to outbreaks in high-risk populations due to the dense sexual networks. We wanted to determine the dissemination of a C. trachomatis variant characterized by pmpH-recombinant gene between L and G genotypes, which was previously described in a high-risk population. METHODS: 449 samples were analysed in two periods ranging from 2009-2015 for detection of pmpH-recombinant gene. For those samples yielding positive amplification, a sampling was selected for phylogenetic reconstructions based on sequencing of five chromosomal genes...
March 18, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28322435/genomic-changes-following-the-reversal-of-a-y-chromosome-to-an-autosome-in-drosophila-pseudoobscura
#10
Ching-Ho Chang, Amanda M Larracuente
Robertsonian translocations resulting in fusions between sex chromosomes and autosomes shape karyotype evolution by creating new sex chromosomes from autosomes. These translocations can also reverse sex chromosomes back into autosomes, which is especially intriguing given the dramatic differences between autosomes and sex chromosomes. To study the genomic events following a Y chromosome reversal, we investigated an autosome-Y translocation in Drosophila pseudoobscura. The ancestral Y chromosome fused to a small autosome (the dot chromosome) approximately 10-15 Mya...
March 21, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28315870/the-hypermethylated-regions-in-avian-chromosomes
#11
Michael Schmid, Claus Steinlein
Chromosomal locations and amounts of 5-methylcytosine-rich chromosome regions were detected in the karyotypes of 13 bird species by indirect immunofluorescence using a monoclonal anti-5-methylcytosine antibody. These species belong to 7 orders and 10 families of modern (Neognathae) and primitive (Palaeognathae) birds and are characterized by macro- and microchromosomes as well as ZW sex chromosomes. In all 13 species, the hypermethylated chromosome segments are confined to constitutive heterochromatin. The chromosomal locations of hypermethylated DNA regions in the karyotypes are constant and species-specific...
March 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28315859/heteromorphism-of-homomorphic-sex-chromosomes-in-two-anole-species-squamata-dactyloidae-revealed-by-synaptonemal-complex-analysis
#12
Artem P Lisachov, Vladimir A Trifonov, Massimo Giovannotti, Malcolm A Ferguson-Smith, Pavel M Borodin
Iguanians (Pleurodonta) are one of the reptile lineages that, like birds and mammals, have sex chromosomes of ancient origin. In most iguanians these are microchromosomes, making a distinction between the X and Y as well as between homeologous sex chromosomes in other species difficult. Meiotic chromosome analysis may be used to elucidate their differentiation, because meiotic prophase chromosomes are longer and less condensed than metaphase chromosomes, and the homologues are paired with each other, revealing minor heteromorphisms...
March 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28315050/forensic-use-of-y-chromosome-dna-a-general-overview
#13
REVIEW
Manfred Kayser
The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short tandem repeat polymorphisms (Y-STRs) are used to characterise paternal lineages of unknown male trace donors, especially suitable when males and females have contributed to the same trace, such as in sexual assault cases...
March 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28314818/allometric-analysis-detects-brain-size-independent-effects-of-sex-and-sex-chromosome-complement-on-human-cerebellar-organization
#14
Catherine Mankiw, Min Tae M Park, P K Reardon, Ari M Fish, Liv S Clasen, Deanna Greenstein, Jay N Giedd, Jonathan D Blumenthal, Jason P Lerch, M Mallar Chakravarty, Armin Raznahan
The cerebellum is a large hindbrain structure that is increasingly recognized for its contribution to diverse domains of cognitive and affective processing in human health and disease. Although several of these domains are sex-biased, our fundamental understanding of cerebellar sex differences - including their spatial distribution, potential biological determinants, and independence from brain volume variation - lags far behind that for the cerebrum. Here, we harness automated neuroimaging methods for cerebellar morphometrics in 417 individuals to (i) localize normative male-female differences in raw cerebellar volume, (ii) compare these to sex chromosome effects estimated across five rare X-/Y-chromosome aneuploidy (SCA) syndromes, and (iii) clarify brain size-independent effects of sex and SCA on cerebellar anatomy using a generalizable allometric approach which considers scaling relationships between regional cerebellar volume and brain volume in health...
March 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28303348/y-chromosome-palindromes-and-gene-conversion
#15
REVIEW
Beniamino Trombetta, Fulvio Cruciani
The presence of large and near-identical inverted repeat sequences (called palindromes) is a common feature of the constitutively haploid sex chromosomes of different species. Despite the fact palindromes originated in a non-recombining context, they have evolved a strong recombinational activity in the form of abundant arm-to-arm gene conversion. Their independent appearance in different species suggests they can have a profound biological significance that has yet to be fully clarified. It has been theorized that natural selection may have favored palindromic organization of male-specific genes and that the establishment of intra-palindrome gene conversion has strong adaptive significance...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28302915/sex-differences-in-ischaemic-stroke-potential-cellular-mechanisms
#16
REVIEW
Anjali Chauhan, Hope Moser, Louise D McCullough
Stroke remains a leading cause of mortality and disability worldwide. More women than men have strokes each year, in part because women live longer. Women have poorer functional outcomes, are more likely to need nursing home care and have higher rates of recurrent stroke compared with men. Despite continued advancements in primary prevention, innovative acute therapies and ongoing developments in neurorehabilitation, stroke incidence and mortality continue to increase due to the aging of the U.S. POPULATION: Sex chromosomes (XX compared with XY), sex hormones (oestrogen and androgen), epigenetic regulation and environmental factors all contribute to sex differences...
April 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#17
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28300613/identification-and-characterization-of-a-masculinizer-masc-gene-involved-in-sex-differentiation-in-artemia
#18
Dong-Rui Li, Hui-Li Ye, Jin-Shu Yang, Fan Yang, Mo-Ran Wang, Stephanie De Vos, Marnik Vuylsteke, Patrick Sorgeloos, Gilbert Van Stappen, Peter Bossier, Wei-Jun Yang
The sex of relatively primitive animals such as invertebrates is mostly determined by environmental factors and chromosome ploidy. Heteromorphic chromosomes may also play an important role, as in the ZW system in lepidopterans. However, the mechanisms of these various sex determination systems are still largely undefined. In the present study, a Masculinizer gene (Ar-Masc) was identified in the crustacean Artemia franciscana Kellogg 1906. Sequence analysis revealed that the 1140-bp full-length open reading frame of Ar-Masc encodes a 380-aa protein containing two CCCH-type zinc finger domains having a high degree of shared identities with the MASC protein characterized in the silkworm Bombyx mori, which has been determined to participate in the production of male-specific splice variants...
March 11, 2017: Gene
https://www.readbyqxmd.com/read/28296079/magel2-knockout-mice-manifest-altered-social-phenotypes-and-a-deficit-in-preference-for-social-novelty
#19
Michael D Fountain, Huifang Tao, Chun-An Chen, Jiani Yin, Christian P Schaaf
MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (OMIM #615547), a neurodevelopmental disorder related to Prader-Willi syndrome. Affected individuals manifest a spectrum of neurocognitive and behavioral phenotypes, including intellectual disability and autism spectrum disorder (ASD). Magel2 knockout mice carrying a maternally inherited, imprinted wildtype allele and a paternally inherited Magel2-lacZ knock-in allele, which abolishes endogenous Magel2 gene function, exhibit several features reminiscent of the human Prader-Willi phenotypes, including neonatal growth retardation, excessive weight gain after weaning, and increased adiposity in adulthood...
March 13, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28295291/study-of-the-extent-of-information-desired-by-women-undergoing-non-invasive-prenatal-testing-following-positive-prenatal-down-syndrome-screening-test-results
#20
Tsz-Kin Lo, Kelvin Yuen-Kwong Chan, Anita Sik-Yau Kan, Po-Lam So, Choi-Wah Kong, Shui-Lam Mak, Chung-Nin Lee
In addition to common trisomies, the inclusion of sex chromosomes and atypical autosomal anomalies in non-invasive prenatal tests (NIPTs) is becoming increasingly common; this is the result of limited screening alternatives that can identify them [1]. It has been recommended that healthcare practitioners understand patient preferences thoroughly [1], and that, given the complexity of NIPTs, patients be given the option to accept or reject this additional information [2, 3]. However, how much information patients want from NIPTs in a real-life clinical setting remains unknown...
March 12, 2017: International Journal of Gynaecology and Obstetrics
keyword
keyword
41568
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"