Read by QxMD icon Read


Pengfei Fan, Yang Liu, Zhechun Zhang, Chao Zhao, Cheng Li, Wulin Liu, Zhijin Liu, Ming Li
The white-cheeked macaque Macaca leucogenys is a recently described species that was only diagnosed based on photos, without any specimen measurements or molecular genetic diagnosis. Using extracted DNA from four newly collected skin specimens, we studied the genetic diversity and phylogenetic position of M. leucogenys using multilocus sequence data, including mitochondrial and Y chromosomal genes. Skin measurements of four individuals showed that the white-cheeked macaque is robust and larger than M. assamensis but is similar in body size to M...
October 18, 2016: Molecular Phylogenetics and Evolution
Angie D Ambers, Jennifer D Churchill, Jonathan L King, Monika Stoljarova, Harrell Gill-King, Mourad Assidi, Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Bruce Budowle
BACKGROUND: Although the primary objective of forensic DNA analyses of unidentified human remains is positive identification, cases involving historical or archaeological skeletal remains often lack reference samples for comparison. Massively parallel sequencing (MPS) offers an opportunity to provide biometric data in such cases, and these cases provide valuable data on the feasibility of applying MPS for characterization of modern forensic casework samples. In this study, MPS was used to characterize 140-year-old human skeletal remains discovered at a historical site in Deadwood, South Dakota, United States...
October 17, 2016: BMC Genomics
Michail Rovatsos, Martina Johnson Pokorná, Marie Altmanová, Lukáš Kratochvíl
Geckos in general show extensive variability in sex determining systems, but only male heterogamety has been demonstrated in the members of their legless family Pygopodidae. In the pioneering study published more than 45 years ago, multiple sex chromosomes of the type X1X1X2X2/X1X2Y were described in Burton's legless lizard (Lialisburtonis) based on conventional cytogenetic techniques. We conducted cytogenetic analyses including comparative genomic hybridization and fluorescence in situ hybridization (FISH) with selected cytogenetic markers in this species and the previously cytogenetically unstudied Papua snake lizard (Lialis jicari) to better understand the nature of these sex chromosomes and their differentiation...
October 21, 2016: Cytogenetic and Genome Research
Lilian Kimura, Kelly Nunes, Lúcia Inês Macedo-Souza, Jorge Rocha, Diogo Meyer, Regina Célia Mingroni-Netto
OBJECTIVES: Quilombo remnants are relics of communities founded by runaway or abandoned African slaves, but often with subsequent extensive and complex admixture patterns with European and Native Americans. We combine a genetic study of Y-chromosome markers with anthropological surveys in order to obtain a portrait of quilombo structure and history in the region that has the largest number of quilombo remnants in the state of São Paulo. METHODS: Samples from 289 individuals from quilombo remnants were genotyped using a set of 17 microsatellites on the Y chromosome (AmpFlSTR-Yfiler)...
October 20, 2016: American Journal of Human Biology: the Official Journal of the Human Biology Council
C S Oliveira, N Z Saraiva, M R de Lima, L Z Oliveira, R V Serapião, C A V Borges, J M Garcia, L S A Camargo
Here we present kinetics data from bovine sex-specific embryo development. Embryos were originated using sex-sorted semen from three different Nelore bulls, and semen from the same batch was used for X-and Y-chromosome spermatozoa sorting. Data was obtained for six time points (24, 48, 96, 120, and 144 h.p.i.). Analyses for each bull׳s embryos (1, 2 and 3) is presented for female and male groups separately. Also, grouped data analysis, considering bull and sex interaction, is shown. For further interpretation and discussion, see "Cell death is involved in sexual dimorphism during preimplantation development" (Oliveira et al...
June 2016: Data in Brief
William J Gammerdinger, Matthew A Conte, Jean-François Baroiller, Helena D'Cotta, Thomas D Kocher
BACKGROUND: Inversions and other structural polymorphisms often reduce the rate of recombination between sex chromosomes, making it impossible to fine map sex-determination loci using traditional genetic mapping techniques. Here we compare distantly related species of tilapia that each segregate an XY system of sex-determination on linkage group 1. We use whole genome sequencing to identify shared sex-patterned polymorphisms, which are candidates for the ancestral sex-determination mutation...
October 18, 2016: BMC Genomics
Małgorzata Tomczyńska, Ireneusz Salata, Joanna Saluk
Autoimmune diseases occur with greater frequency in women than in men, suggesting that the mechanism of pathogenesis is conditioned by gender. So far not defined clearly factors responsible for the development and course of these diseases depending on sex. However, it was found there is a clear sexual dimorphism of the immune system, which may determine the process of autoimmunity. The causes of the increased incidence of women in autoimmune diseases are attributed to the action of the hormones estrogen, which can promote the process of autoimmunity and enhance the clinical symptoms of the disease...
September 29, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
L Alimardanian, K Saliminejad, S Razi, A Ahani
Microdeletions of the azoospermia factor (AZF) regions in the Y chromosome are a well-known genetic cause of male infertility, resulting in impairment of spermatogenesis. However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoospermic controls. In total, 154 infertile men (113 patients with azoospermia, 41 with oligozoospermia) and 111 normozoospermic controls were analysed using PCR...
November 2016: Andrologia
X Zhang, H Han, T Zhang, T Sun, Y Xi, N Chen, Y Huang, R Dang, X Lan, H Chen, C Lei
Recent transcriptomic analysis of the bovine Y chromosome revealed abundant presence of multi-copy protein coding gene families on the male-specific region of the Y chromosome (MSY). Copy number variations (CNVs) of several MSY genes are closely related to semen quality and male reproduction in cattle. However, the CNVs of MSY genes in water buffalo are largely unknown. Therefore, this study aimed to investigate the CNVs of HSFY and ZNF280BY of 298 buffaloes from 17 populations distributed in China, Vietnam and Laos using quantitative PCR...
October 14, 2016: Animal Genetics
Mitzi I Kuroda, Andres Hilfiker, John C Lucchesi
The sex chromosomes have special significance in the history of genetics. The chromosomal basis of inheritance was firmly established when Calvin Bridges demonstrated that exceptions to Mendel's laws of segregation were accompanied at the cytological level by exceptional sex chromosome segregation. The morphological differences between X and Y exploited in Bridges' experiments arose as a consequence of the evolution of the sex chromosomes. Originally a homologous chromosome pair, the degeneration of the Y chromosome has been accompanied by a requirement for increased expression of the single X chromosome in males...
October 2016: Genetics
Maithili Mandar Kulkarni, Siddhi Gaurish Sinai Khandeparkar, Avinash R Joshi, Pallavi V Bhayekar
Gonadoblastomas (GBYs) are rare gonadal tumors almost always arising from a dysgenetic gonad with a Y chromosome. Very rarely, GBYs appear in otherwise normal women with a history of pregnancy. The typical histological appearance of GBY can be altered by extensive deposition of basement membrane material, calcification, or overgrowth by a malignant tumor. Less than 10 cases have been reported with normal 46XX karyotype. Only six cases of GBY have been described in pregnant women. We present a unique case of GBY with dysgerminoma in a genotypically and phenotypically normal woman with a history of normal pregnancy, absence of virilization, and characteristic immunohistomorphological features...
October 2016: Indian Journal of Pathology & Microbiology
Supamit Ukarapong, Gary Berkovitz, Kenneth McElreavey, Anu Bashamboo, Yong Bao
Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of gonadal tumor. We present here three cases of steroid-resistant nephrotic syndrome with WT1 mutation and 46,XY karyotype. Patient 1 and 2 have intron splice site (IVS9+5G > A) mutation...
October 10, 2016: Clinical Nephrology
Bijan Soleymani, Sayed Hassan Hafezian, Ghodratollah Rahimi Mianji, Kamran Mansouri, Broomand Chaharaein, Ahmad Tajehmiri, Mehdi Sharifi Tabar, Ali Mostafaie
Sex determining region Y gene (SRY) is located on Y chromosome and encodes a protein with 229 amino acids. In this study, ORF region of SRY with a length of 690 bp was synthesized using PCR and ligated to pET28a (+), then transformed in E.coli DH5α. E.coli BL21 (DE3) strain was chosen to express recombinant bovine SRY protein. A set of optimization steps was taken including different concentrations of IPTG, glucose, and temperatures at differed incubation times after the induction. Results showed that temperature points and different concentrations of IPTG and glucose had a significant effect (p < 0...
August 10, 2016: Animal Biotechnology
Anders Buchard, Marie-Louise Kampmann, Lena Poulsen, Claus Børsting, Niels Morling
The HID-Ion AmpliSeq™ Identity Panel is a next-generation sequencing assay with 90 autosomal and 34 Y-chromosome SNPs that are amplified in one PCR step and subsequently sequenced using the Ion Personal Genome Machine (Ion PGM™) System. This assay was validated for relationship testing in our ISO 17025 accredited laboratory in 2015. Here, the essential parts of the validation report submitted to the Danish Accreditation Fund are presented. A total of 100 unrelated Danes were typed in duplicates and the locus balance, heterozygote balance (Hb) and noise levels were analysed in detail...
October 6, 2016: Electrophoresis
Juan Ji, Yufeng Qin, Rong Wang, Zhenyao Huang, Yan Zhang, Ran Zhou, Ling Song, Xiufeng Ling, Zhibin Hu, Dengshun Miao, Hongbing Shen, Yankai Xia, Xinru Wang, Chuncheng Lu
Male factor infertility affects one-sixth of couples worldwide, and non-obstructive azoospermia (NOA) is one of the most severe forms. In recent years there has been increasing evidence to implicate the participation of X chromosome in the process of spermatogenesis. To uncover the roles of X-linked multi-copy genes in spermatogenesis, we performed systematic analysis of X-linked gene copy number variations (CNVs) and Y chromosome haplogrouping in 447 idiopathic NOA patients and 485 healthy controls. Interestingly, the frequency of individuals with abnormal level copy of Variable charge, X-linked (VCX) was significantly different between cases and controls after multiple test correction (p = 5...
October 1, 2016: Oncotarget
Renee Heffron, Urvi M Parikh, Kerri J Penrose, Nelly Mugo, Deborah Donnell, Connie Celum, John W Mellors, Jared M Baeten
Observational analyses have suggested that women using the injectable contraceptive depot medroxyprogesterone acetate (DMPA) may have heightened risk of acquiring HIV. However, those analyses were potentially confounded by sexual behavior, with possible differential condom use and reporting by women using DMPA versus no contraception. In a cross-sectional study, we measured the presence of a biomarker of recent condomless sex (Y chromosomal [Yc] DNA) in vaginal swabs from HIV-uninfected African women who had an HIV-infected partner and reported 100 % condom use...
October 3, 2016: AIDS and Behavior
Nicole M M Novroski, Jonathan L King, Jennifer D Churchill, Lay Hong Seah, Bruce Budowle
Massively parallel sequencing (MPS) can identify sequence variation within short tandem repeat (STR) alleles as well as their nominal allele lengths that traditionally have been obtained by capillary electrophoresis. Using the MiSeq FGx Forensic Genomics System (Illumina), STRait Razor, and in-house excel workbooks, genetic variation was characterized within STR repeat and flanking regions of 27 autosomal, 7 X chromosome and 24 Y-chromosome STR markers in 777 unrelated individuals from four population groups...
September 28, 2016: Forensic Science International. Genetics
Sebastián Pita, Francisco Panzera, Antonio Sánchez, Teresa Palomeque, Pedro Lorite
In order to provide a broad picture on the origin and evolution of holocentric X chromosomes in heteropteran species, we prepared a sex chromosome painting probe by microdissection of the X1 and X2 chromosomes from a kissing bug Mepraia spinolai (Hemiptera: Reduviidae: Triatominae). Fluorescence in situ hybridization on four species of the Triatomini having different amounts of autosomal heterochromatin and sex chromosome systems show that the Xs probe hybridizes on the euchromatin, located both on autosomes and X chromosomes...
September 29, 2016: Journal of Medical Entomology
Linda Koshy, A L Anju, S Harikrishnan, V R Kutty, V T Jissa, Irin Kurikesu, Parvathy Jayachandran, A Jayakumaran Nair, A Gangaprasad, G M Nair, P R Sudhakaran
The extraction of genomic DNA is the crucial first step in large-scale epidemiological studies. Though there are many popular DNA isolation methods from human whole blood, only a few reports have compared their efficiencies using both end-point and real-time PCR assays. Genomic DNA was extracted from coronary artery disease patients using solution-based conventional protocols such as the phenol-chloroform/proteinase-K method and a non-phenolic non-enzymatic Rapid-Method, which were evaluated and compared vis-a-vis a commercially available silica column-based Blood DNA isolation kit...
September 29, 2016: Molecular Biology Reports
François Vallée, Aurélien Luciani, Murray P Cox
Archeology, linguistics and increasingly genetics are clarifying how populations moved from mainland Asia, through Island Southeast Asia, and out into the Pacific during the farming revolution. Yet key features of this process remain poorly understood, particularly how social behaviors intersected with demographic drivers to create the patterns of genomic diversity observed across Island Southeast Asia today. Such questions are ripe for computer modeling. Here, we construct an agent-based model to simulate human mobility across Island Southeast Asia from the Neolithic period to the present, with a special focus on interactions between individuals with Asian, Papuan and mixed Asian-Papuan ancestry...
September 28, 2016: Genetics
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"