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https://www.readbyqxmd.com/read/28339606/testicular-abnormalities-in-mice-with-y-chromosome-deficiencies%C3%A2
#1
Victor A Ruthig, Torbjoern Nielsen, Jonathan M Riel, Yasuhiro Yamauchi, Egle A Ortega, Quinci Salvador, Monika A Ward
We recently investigated mice with Y chromosome gene contribution limited to two, one, or no Y chromosome genes in respect to their ability to produce haploid round spermatids and live offspring following round spermatid injection. Here we explored the normalcy of germ cells and Sertoli cells within seminiferous tubules, and the interstitial tissue of the testis in these mice. We performed quantitative analysis of spermatogenesis and interstitial tissue on Periodic acid-Schiff and hematoxylin-stained mouse testis sections...
February 7, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28335724/a-genetic-chronology-for-the-indian-subcontinent-points-to-heavily-sex-biased-dispersals
#2
Marina Silva, Marisa Oliveira, Daniel Vieira, Andreia Brandão, Teresa Rito, Joana B Pereira, Ross M Fraser, Bob Hudson, Francesca Gandini, Ceiridwen Edwards, Maria Pala, John Koch, James F Wilson, Luísa Pereira, Martin B Richards, Pedro Soares
BACKGROUND: India is a patchwork of tribal and non-tribal populations that speak many different languages from various language families. Indo-European, spoken across northern and central India, and also in Pakistan and Bangladesh, has been frequently connected to the so-called "Indo-Aryan invasions" from Central Asia ~3.5 ka and the establishment of the caste system, but the extent of immigration at this time remains extremely controversial. South India, on the other hand, is dominated by Dravidian languages...
March 23, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28333849/autism-spectrum-disorder-in-males-with-sex-chromosome-aneuploidy-xxy-klinefelter-syndrome-xyy-and-xxyy
#3
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/28329013/the-origin-of-b-chromosomes-in-yellow-necked-mice-apodemus-flavicollis-break-rules-but-keep-playing-the-game
#4
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/28322435/genomic-changes-following-the-reversal-of-a-y-chromosome-to-an-autosome-in-drosophila-pseudoobscura
#5
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/28315050/forensic-use-of-y-chromosome-dna-a-general-overview
#6
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
#7
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
#8
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/28295252/meta-analysis-of-biomarkers-predicting-risk-of-malignant-progression-in-barrett-s-oesophagus
#9
REVIEW
K Altaf, J-J Xiong, D De la Iglesia, L Hickey, A Kaul
BACKGROUND: Barrett's oesophagus is a precursor to the development of oesophageal adenocarcinoma. This study sought to clarify the role of genetic, chromosomal and proliferation biomarkers that have been the subjects of multiple studies through meta-analysis. METHODS: MEDLINE, Embase, PubMed and the Cochrane Library were searched for clinical studies assessing the value of p53, p16, Ki-67 and DNA content abnormalities in Barrett's oesophagus. The main outcome measure was the risk of development of high-grade dysplasia (HGD) or oesophageal adenocarcinoma...
April 2017: British Journal of Surgery
https://www.readbyqxmd.com/read/28295231/deficiency-in-irak4-activity-attenuates-manifestations-of-murine-lupus
#10
Michael Murphy, Goutham Pattabiraman, Tissa T Manavalan, Andrei E Medvedev
Interleukin-1 receptor-associated kinase (IRAK) 4 mediates host defense against infections. As an active kinase, IRAK4 elicits full spectra of myeloid differentiation primary response protein (MyD) 88-dependent responses, while kinase-inactive IRAK4 induces a subset of cytokines and negative regulators whose expression is not regulated by mRNA stability. IRAK4 kinase activity is critical for resistance against Streptococcus pneumonia, but its involvement in autoimmunity is incompletely understood. In this study, we determined the role of IRAK4 kinase activity in murine lupus...
March 10, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28284086/association-of-y-linked-variants-with-impulsivity-and-aggression-in-boys-with-attention-deficit-hyperactivity-disorder-of-chinese-han-descent
#11
Lu Liu, Jia Cheng, Haimei Li, Yi Su, Li Sun, Li Yang, Qiujin Qian, Yufeng Wang
Y chromosome plays important role in brain function and may help to explain the sex difference in attention-deficit/hyperactivity disorder (ADHD). A total of 857 boys with ADHD and 574 male controls were genotyped for 14 Y-linked markers. Analyses for both dichotomous phenotype and quantitative traits and the interaction effects with MAOA were performed. The results indicated significant association of four markers (M88, M95, M175, and M119) with inhibition function and aggression in boys with ADHD. Positive interaction effects with MAOA were also detected...
February 24, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28283737/mild-reproductive-impact-of-a-y-chromosome-deletion-on-a-c57bl-6j-substrain
#12
Megan M MacBride, Adam Navis, Amar Dasari, Ana V Perez
A recently reported deletion of about 40 Mb in length between 6.12/6.57 and 46.73/47.31 Mb on the Y chromosome long arm of the C57BL/6JBomTac inbred strain made us closely examine the strain's breeding history and reproductive characteristics. We verified that the two copies of Rbm31y that are present inside the putative deletion were indeed deleted. This inbred strain presents an expected litter size for a C57BL/6 substrain. In vitro fertilization (IVF) efficiency and breeding efficiencies are comparable to those of the C57BL/6NTac substrain; however, the male/female sex ratio in the C57BL/6JBomTac is mildly skewed towards females...
March 10, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28281087/genetic-differentiation-between-upland-and-lowland-populations-shapes-the-y-chromosomal-landscape-of-west-asia
#13
O Balanovsky, M Chukhryaeva, V Zaporozhchenko, V Urasin, M Zhabagin, A Hovhannisyan, A Agdzhoyan, K Dibirova, M Kuznetsova, S Koshel, E Pocheshkhova, I Alborova, R Skhalyakho, O Utevska, Kh Mustafin, L Yepiskoposyan, C Tyler-Smith, E Balanovska
Y-chromosomal variation in West Asian populations has so far been studied in less detail than in the neighboring Europe. Here, we analyzed 598 Y-chromosomes from two West Asian subregions-Transcaucasia and the Armenian plateau-using 40 Y-SNPs and 17 Y-STRs and combined them with previously published data from the region. The West Asian populations fell into two clusters: upland populations from the Anatolian, Armenian and Iranian plateaus, and lowland populations from the Levant, Mesopotamia and the Arabian Peninsula...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28280050/single-stranded-dna-library-preparation-preferentially-enriches-short-maternal-dna-in-maternal-plasma
#14
Joaquim S L Vong, Jason C H Tsang, Peiyong Jiang, Wing-Shan Lee, Tak Yeung Leung, K C Allen Chan, Rossa W K Chiu, Y M Dennis Lo
BACKGROUND: Recent studies have suggested that single-stranded DNA (ssDNA) library preparation can enrich short DNA species from the plasma of healthy individuals, cancer patients, and transplant recipients. Based on previous observations that fetal DNA molecules in the maternal plasma are shorter than maternal DNA molecules, ssDNA library preparation may potentially enrich fetal DNA and provide substantial improvement in noninvasive prenatal testing. METHODS: We tested this hypothesis by comparing the maternal plasma DNA sequencing results using 2 types of ssDNA library preparation methods and a standard double-stranded DNA (dsDNA) library method using samples from first- and third-trimester pregnancies...
March 9, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28279402/y-chromosome-and-cardiovascular-risk-what-are-we-missing
#15
EDITORIAL
Konstantinos Voskarides
No abstract text is available yet for this article.
March 1, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28279034/-clinical-significance-of-cytogenetic-monitoring-in-chronic-myeloid-leukemia
#16
C Y Pan, N Xu, B L He, R Cao, L B Liao, C X Yin, Y Q Lan, Z Y Lu, J X Huang, J Sun, R Feng, Q F Liu, X L Liu
Objective: To analyze the association of cytogenetic abnormalities with the prognosis of chronic myeloid leukemia (CML) patients in tyrosine kinase inhibitors (TKI) era. Methods: Karyotype analysis of chromosome G-banding was carried out in 387 newly diagnosed CML patients by short-term culture of bone marrow cells. The correlation of cytogenetic abnormalities and CML progression was explored in combination with ABL tyrosine point mutations. Result: Of 387 patients with positive BCR-ABL fusion gene assayed by fluorescence in situ hybridization (FISH) technique, 94...
February 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28275244/mosaic-chromosome-y-loss-and-testicular-germ-cell-tumor-risk
#17
Mitchell J Machiela, Casey L Dagnall, Anand Pathak, Jennifer T Loud, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Douglas R Stewart
Studies have suggested mosaic loss of chromosome Y (mLOY) in blood-derived DNA is common in older men. Cohort studies investigating mLOY and mortality have reported contradictory results. Previous work found that a 1.6 Mb deletion of the AZFc region on the Y chromosome (the 'gr/gr' deletion) is associated with both male infertility and increased risk of testicular germ cell tumors (TGCT). We investigated whether mosaic loss across the entire Y chromosome was associated with TGCT. We obtained blood- and buccal-derived DNA from two case-control studies: the NCI Familial Testicular Cancer Study (cases=172; controls=163) and the NCI US Servicemen's Testicular Tumor Environmental and Endocrine Determinants Study (cases=506; controls=611)...
March 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28271363/yfiler-%C3%A2-plus-population-samples-and-dilution-series-stutters-analytic-thresholds-and-drop-out-probabilities
#18
Mikkel Meyer Andersen, Helle Smidt Mogensen, Poul Svante Eriksen, Niels Morling
The Yfiler (Ⓡ) Plus Amplification Kit amplifies 27 Y chromosomal small tandem repeat (STR) markers. The kit has five-fluorescent dye chemistry and the improved PCR buffer system of modern STR kits. We validated the kit for accredited investigations of crime scene samples by a thorough study of kit dynamics and performance. We determined dye-dependent analytical thresholds by receiver operating characteristics (ROC) and made a customised artefact filter that includes theoretical known artefacts by use of previously analysed population samples...
March 7, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28269241/label-free-detection-of-sex-determining-region-y-sry-via-capacitive-biosensor
#19
Shilpa Sivashankar, Christos Sapsanis, Sumeyra Agambayev, Ulrich Buttner, Khaled Nabil Salama
In this work, we present for the first time, the use of a simple fractal capacitive biosensor for the quantification and detection of sex-determining region Y (SRY) genes. This section of genetic code, which is found on the Y chromosome, finds importance for study as it causes fetuses to develop characteristics of male sex-like gonads when a mutation occurs. It is also an important genetic code in men, and disorders involving the SRY gene can cause infertility and sexual malfunction that lead to a variety of gene mutational disorders...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28265767/the-y-chromosomes-of-the-great-apes
#20
REVIEW
Pille Hallast, Mark A Jobling
The great apes (orangutans, gorillas, chimpanzees, bonobos and humans) descended from a common ancestor around 13 million years ago, and since then their sex chromosomes have followed very different evolutionary paths. While great-ape X chromosomes are highly conserved, their Y chromosomes, reflecting the general lability and degeneration of this male-specific part of the genome since its early mammalian origin, have evolved rapidly both between and within species. Understanding great-ape Y chromosome structure, gene content and diversity would provide a valuable evolutionary context for the human Y, and would also illuminate sex-biased behaviours, and the effects of the evolutionary pressures exerted by different mating strategies on this male-specific part of the genome...
March 6, 2017: Human Genetics
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