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https://www.readbyqxmd.com/read/28100911/variants-on-chromosome-4q21-near-pkd2-and-siblings-are-associated-with-dental-caries
#1
Scott Eckert, Eleanor Feingold, Margaret Cooper, Michael M Vanyukov, Brion S Maher, Rebecca L Slayton, Marcia C Willing, Steven E Reis, Daniel W McNeil, Richard J Crout, Robert J Weyant, Steven M Levy, Alexandre R Vieira, Mary L Marazita, John R Shaffer
A recent genome-wide association study (GWAS) for dental caries nominated the chromosomal region 4q21 near ABCG2, PKD2 and the SIBLING (small integrin-binding ligand N-linked glycoprotein) gene family. In this investigation, we followed up and fine-mapped this region using a tag-SNP (single-nucleotide polymorphism) approach in 13 age- and race-stratified samples from 6 independent studies (N=4089). Participants were assessed for dental caries via intraoral examination and 49 tag-SNPs were genotyped capturing much of the variation in the 4q21 locus...
January 19, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28100589/meiotic-consequences-of-genetic-divergence-across-the-murine-pseudoautosomal-region
#2
Beth L Dumont
The production of haploid gametes during meiosis is dependent on the homology-driven processes of pairing, synapsis, and recombination. On the mammalian heterogametic sex chromosomes, these key meiotic activities are confined to the pseudoautosomal region (PAR), a short region of near-perfect sequence homology between the X and Y chromosomes. Despite its established importance for meiosis, the PAR is rapidly evolving, raising the question of how proper X/Y segregation is buffered against the accumulation of homology-disrupting mutations...
January 18, 2017: Genetics
https://www.readbyqxmd.com/read/28099765/when-and-why-does-sex-chromosome-dosage-compensation-evolve
#3
Christopher H Chandler
In many species, sex is determined by sex chromosomes, and the sex-specific chromosome (Y or W) stops recombining until it degenerates and carries fewer genes than its recombining counterpart (X or Z). This creates an imbalance in the dosage of most sex-linked genes between males and females. Early work in model organisms demonstrated that X chromosomes in multiple groups independently evolved regulatory mechanisms maintaining balanced expression of X-linked genes. However, recent studies have shown that these dosage compensation mechanisms are far from universal...
January 18, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28099161/menstrual-cycle-and-the-temporal-discrimination-threshold
#4
Eavan M Mc Govern, Emer O'Connor, Ines Beiser, Laura Williams, John S Butler, Brendan Quinlivan, Shruti Narasiham, Rebecca Beck, Richard B Reilly, Sean O'Riordan, Michael Hutchinson
The temporal discrimination threshold (TDT) is a proposed pre-clinical biomarker (endophenotype) for adult onset isolated focal dystonia (AOIFD). Age- and sex-related effects on temporal discrimination demonstrate that women, before the age of 40 years, have faster temporal discrimination than men but their TDTs worsen with age at almost three times the rate of men. Thus after 40 years the TDT in women is progressively worse than in men. AOIFD is an increasingly female-predominant disorder after the age of 40; it is not clear whether this age-related sexually-dimorphic difference observed for both the TDT and sex ratio at disease onset in AOIFD is a hormonal or chromosomal effect...
January 18, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28099131/turner-syndrome-and-pituitary-adenomas-a-case-report-and-review-of-literature
#5
Tiffany Yeh, Angela Ganan Soto, Jose Bernardo Quintos, Lisa Swartz Topor
BACKGROUND: Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism. CASE PRESENTATION: A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO...
January 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28098850/a-rare-exception-to-haldane-s-rule-are-x-chromosomes-key-to-hybrid-incompatibilities
#6
P A Moran, M G Ritchie, N W Bailey
The prevalence of Haldane's rule suggests that sex chromosomes commonly have a key role in reproductive barriers and speciation. However, the majority of research on Haldane's rule has been conducted in species with conventional sex determination systems (XY and ZW) and exceptions to the rule have been understudied. Here we test the role of X-linked incompatibilities in a rare exception to Haldane's rule for female sterility in field cricket sister species (Teleogryllus oceanicus and T. commodus). Both have an XO sex determination system...
January 18, 2017: Heredity
https://www.readbyqxmd.com/read/28095800/diet-gonadal-sex-and-sex-chromosome-complement-influence-white-adipose-tissue-mirna-expression
#7
Jenny C Link, Yehudit Hasin-Brumshtein, Rita M Cantor, Xuqi Chen, Arthur P Arnold, Aldons J Lusis, Karen Reue
BACKGROUND: MicroRNAs (miRNAs) are small non-coding RNA molecules that regulate gene expression by targeting specific mRNA species for degradation or interfering with translation. Specific miRNAs are key regulators of adipogenesis, and are expressed at different levels in adipose tissue from lean and obese mice. The degree of lipid accumulation and distribution of white adipose tissue differs between males and females, and it is unknown whether sex differences in adipose tissue-specific miRNA expression may contribute to this dimorphism...
January 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28094446/deep-sequencing-of-a-candidate-region-harboring-the-sox9-gene-for-the-canine-xx-disorder-of-sex-development
#8
J Nowacka-Woszuk, I Szczerbal, H Pausch, S Hundi, M K Hytönen, A Grzemski, K Flisikowski, H Lohi, M Switonski, M Szydlowski
A disorder of sex development (DSD) in dogs with female sex chromosomes (78, XX), a lack of the SRY gene and the presence of testes or ovotestes is commonly diagnosed in numerous breeds. The molecular background of DSD is not fully recognized but has been linked to the copy number variation in the region harboring the SOX9 gene. We applied a genome-wide association study and targeted next-generation sequencing techniques to compare DSD and normal female dogs. The genome-wide association study did not indicate a significant chromosome region...
January 17, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28093083/genetic-analysis-of-teat-number-in-pigs-reveals-some-developmental-pathways-independent-of-vertebra-number-and-several-loci-which-only-affect-a-specific-side
#9
Gary A Rohrer, Dan J Nonneman
BACKGROUND: Number of functional teats is an important trait in commercial swine production. As litter size increases, the number of teats must also increase to supply nutrition to all piglets. Therefore, a genome-wide association analysis was conducted to identify genomic regions that affect this trait in a commercial swine population. Genotypic data from the Illumina Porcine SNP60v1 BeadChip were available for 2951 animals with total teat number (TTN) records. A subset of these animals (n = 1828) had number of teats on each side recorded...
January 4, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28091399/sex-determination-and-maintenance-the-role-of-dmrt1-and-foxl2
#10
REVIEW
Shengsong Huang, Leping Ye, Haolin Chen
In many species, including mammals, sex determination is genetically based. The sex chromosomes that individuals carry determine sex identity. Although the genetic base of phenotypic sex is determined at the moment of fertilization, the development of testes or ovaries in the bipotential early gonads takes place during embryogenesis. During development, sex determination depends upon very few critical genes. When one of these key genes functions inappropriately, sex reversal may happen. Consequently, an individual's sex phenotype may not necessarily be consistent with the sex chromosomes that are present...
January 13, 2017: Asian Journal of Andrology
https://www.readbyqxmd.com/read/28081371/gwas-identifies-new-loci-for-painful-temporomandibular-disorder
#11
A E Sanders, D Jain, T Sofer, K F Kerr, C C Laurie, J R Shaffer, M L Marazita, L M Kaste, G D Slade, R B Fillingim, R Ohrbach, W Maixner, T Kocher, O Bernhardt, A Teumer, C Schwahn, K Sipilä, R Lähdesmäki, M Männikkö, P Pesonen, M Järvelin, C M Rizzatti-Barbosa, C B Meloto, M Ribeiro-Dasilva, L Diatchenko, P Serrano, S B Smith
Temporomandibular disorder (TMD) is a musculoskeletal condition characterized by pain and reduced function in the temporomandibular joint and/or associated masticatory musculature. Prevalence in the United States is 5% and twice as high among women as men. We conducted a discovery genome-wide association study (GWAS) of TMD in 10,153 participants (769 cases, 9,384 controls) of the US Hispanic Community Health Study/Study of Latinos (HCHS/SOL). The most promising single-nucleotide polymorphisms (SNPs) were tested in meta-analysis of 4 independent cohorts...
January 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28081279/karyotype-analysis-and-ribosomal-gene-localization-of-spotted-knifejaw-oplegnathus-punctatus
#12
P Z Li, D D Cao, X B Liu, Y J Wang, H Y Yu, X J Li, Q Q Zhang, X B Wang
The spotted knifejaw, Oplegnathus punctatus, is an important aquaculture fish species in China. To better understand the chromosomal microstructure and the karyotypic origin of this species, cytogenetic analysis was performed using Giemsa staining to identify metaphase chromosomes, C-banding to detect C-positive heterochromatin, silver staining to identify the nucleolus organizer regions (Ag-NORs), and fluorescence in situ hybridization (FISH) for physical mapping of the major (18S rDNA) and minor (5S rDNA) ribosomal genes...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28081238/genomic-organization-of-repetitive-dna-in-woodpeckers-aves-piciformes-implications-for-karyotype-and-zw-sex-chromosome-differentiation
#13
Thays Duarte de Oliveira, Rafael Kretschmer, Natasha Avila Bertocchi, Tiago Marafiga Degrandi, Edivaldo Herculano Corrêa de Oliveira, Marcelo de Bello Cioffi, Analía Del Valle Garnero, Ricardo José Gunski
Birds are characterized by a low proportion of repetitive DNA in their genome when compared to other vertebrates. Among birds, species belonging to Piciformes order, such as woodpeckers, show a relatively higher amount of these sequences. The aim of this study was to analyze the distribution of different classes of repetitive DNA-including microsatellites, telomere sequences and 18S rDNA-in the karyotype of three Picidae species (Aves, Piciformes)-Colaptes melanochloros (2n = 84), Colaptes campestris (2n = 84) and Melanerpes candidus (2n = 64)-by means of fluorescence in situ hybridization...
2017: PloS One
https://www.readbyqxmd.com/read/28078817/birth-of-puppies-of-predetermined-sex-after-artificial-insemination-with-a-low-number-of-sex-sorted-frozen-thawed-spermatozoa-in-field-conditions
#14
Yun-Fang Wei, Fang-Liang Chen, Shu-Sheng Tang, Ai-Guo Mao, Li-Guang Li, Lu-Guang Cheng, Chao Chen, Fei-Xiang Li, Bin Wang, Tao Xu, Yue-Jun Zhang, Jing Li, Jiu-Sheng Wan
The aim of this study was to evaluate fertility and sex ratios after artificial insemination in dogs under field conditions. Semen was cryopreserved as unsorted (control) or was separated into X- and Y-chromosome-bearing sperm using a cell sorter. Sixty female dogs were inseminated with frozen-thawed spermatozoa of 100 × 10(6) unsorted (a dose in practice) and 4 × 10(6) sorted (X and Y group, respectively). A total of 20 dogs became pregnant and 126 puppies were born from the three groups. The percentage of parturition was similar for the X (5/20; 25...
January 11, 2017: Animal Science Journal, Nihon Chikusan Gakkaihō
https://www.readbyqxmd.com/read/28074715/comparison-of-three-different-primer-sets-for-sexing-birds
#15
Emel Çakmak, Çiğdem Akın Pekşen, C Can Bilgin
Because many bird species are monomorphic or only sexually dimorphic in adult stages, it is difficult to determine their sexes, which may cause significant problems in population and conservation studies. DNA-based sexing relies on the chromodomain helicase DNA binding ( CHD) gene located on the W chromosome and its homolog on the Z chromosome, giving distinct banding patterns on agarose gel as a result of length differences in intronic regions within this gene. We used 3 specific primer sets, CHD1F/CHD1R, 2550F/2718R, and P2/P8, for sex determination of 230 samples from 77 avian species...
January 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28070912/role-of-testosterone-and-y-chromosome-genes-for-the-masculinization-of-the-human-brain
#16
Ivanka Savic, Louise Frisen, Amirhossein Manzouri, Anna Nordenstrom, Angelica Lindén Hirschberg
: Women with complete androgen insensitivity syndrome (CAIS) have a male (46,XY) karyotype but no functional androgen receptors. Their condition, therefore, offers a unique model for studying testosterone effects on cerebral sex dimorphism. We present MRI data from 16 women with CAIS and 32 male (46,XY) and 32 female (46,XX) controls. METHODS: FreeSurfer software was employed to measure cortical thickness and subcortical structural volumes. Axonal connections, indexed by fractional anisotropy, (FA) were measured with diffusion tensor imaging, and functional connectivity with resting state fMRI...
January 10, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28068919/construction-of-high-resolution-recombination-maps-in-asian-seabass
#17
Le Wang, Bin Bai, Peng Liu, Shu Qing Huang, Zi Yi Wan, Elaine Chua, Baoqing Ye, Gen Hua Yue
BACKGROUND: A high-density genetic map is essential for de novo genome assembly, fine mapping QTL for important complex traits, comparative genomic studies and understanding the mechanisms of genome evolution. Although a number of genomic resources are available in Asian seabass (Lates calcarifer), a high-density linkage map is still lacking. To facilitate QTL mapping for marker-assisted selection and genome assembly, and to understand the genome-wide recombination rates, we constructed high density linkage maps using three families and genotyping by sequencing...
January 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28064166/sexual-dimorphism-of-body-size-is-controlled-by-dosage-of-the-x-chromosomal-gene-myc-and-by-the-sex-determining-gene-tra-in-drosophila
#18
Kristina Wehr Mathews, Margrith Cavegn, Monica Zwicky
Drosophila females are larger than males. In this paper, we describe how X chromosome dosage drives sexual dimorphism of body size through two means: first, through unbalanced expression of a key X-linked growth regulating gene and second, through female-specific activation of the sex-determination pathway. X-chromosome dosage determines phenotypic sex by regulating the genes of the sex-determining pathway. In the presence of two sets of X-chromosome signal elements (XSEs), Sex-lethal (Sxl) is activated in female (XX) but not male (XY) animals...
January 6, 2017: Genetics
https://www.readbyqxmd.com/read/28064164/the-relative-contributions-of-the-x-chromosome-and-autosomes-to-local-adaptation
#19
Clémentine Lasne, Carla M Sgrò, Tim Connallon
Models of sex chromosome and autosome evolution yield key predictions about the genomic basis of adaptive divergence, and such models have been important in guiding empirical research in comparative genomics and studies of speciation. In addition to the adaptive differentiation that occurs between species over time, selection also favors genetic divergence across geographic space, with subpopulations of single species evolving conspicuous differences in traits involved in adaptation to local environmental conditions...
January 6, 2017: Genetics
https://www.readbyqxmd.com/read/28061514/a-genome-wide-association-study-of-vertical-cup-disc-ratio-in-a-latino-population
#20
Drew R Nannini, Mina Torres, Yii-Der I Chen, Kent D Taylor, Jerome I Rotter, Rohit Varma, Xiaoyi Gao
Purpose: Vertical cup-disc ratio (VCDR) is used as a clinical assessment measure to identify and monitor glaucomatous damage to the optic nerve. Previous genetic studies conducted in European and Asian populations have identified many loci associated with VCDR. The genetic factors in other ethnic populations, such as Latino, influencing VCDR remain to be determined. Here, we describe the first genome-wide association study (GWAS) on VCDR in Latino individuals. Methods: We conducted this GWAS on VCDR using 4537 Latino individuals who were genotyped by using either the Illumina OmniExpress BeadChip (∼730K markers) or the Illumina Hispanic/SOL BeadChip (∼2...
January 1, 2017: Investigative Ophthalmology & Visual Science
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