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https://www.readbyqxmd.com/read/29348569/genomelandscaper-landscape-analysis-of-genome-fingerprints-maps-assessing-chromosome-architecture
#1
Hannan Ai, Yuncan Ai, Fanmei Meng
Assessing correctness of an assembled chromosome architecture is a central challenge. We create a geometric analysis method (called GenomeLandscaper) to conduct landscape analysis of genome-fingerprints maps (GFM), trace large-scale repetitive regions, and assess their impacts on the global architectures of assembled chromosomes. We develop an alignment-free method for phylogenetics analysis. The human Y chromosomes (GRCh.chrY, HuRef.chrY and YH.chrY) are analysed as a proof-of-concept study. We construct a galaxy of genome-fingerprints maps (GGFM) for them, and a landscape compatibility among relatives is observed...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29338681/the-evolutionary-process-of-mammalian-sex-determination-genes-focusing-on-marsupial-srys
#2
Yukako Katsura, Hiroko X Kondo, Janelle Ryan, Vincent Harley, Yoko Satta
BACKGROUND: Maleness in mammals is genetically determined by the Y chromosome. On the Y chromosome SRY is known as the mammalian male-determining gene. Both placental mammals (Eutheria) and marsupial mammals (Metatheria) have SRY genes. However, only eutherian SRY genes have been empirically examined by functional analyses, and the involvement of marsupial SRY in male gonad development remains speculative. RESULTS: In order to demonstrate that the marsupial SRY gene is similar to the eutherian SRY gene in function, we first examined the sequence differences between marsupial and eutherian SRY genes...
January 16, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29335024/sex-differences-in-the-late-first-trimester-human-placenta-transcriptome
#3
Tania L Gonzalez, Tianyanxin Sun, Alexander F Koeppel, Bora Lee, Erica T Wang, Charles R Farber, Stephen S Rich, Lauren W Sundheimer, Rae A Buttle, Yii-Der Ida Chen, Jerome I Rotter, Stephen D Turner, John Williams, Mark O Goodarzi, Margareta D Pisarska
BACKGROUND: Development of the placenta during the late first trimester is critical to ensure normal growth and development of the fetus. Developmental differences in this window such as sex-specific variation are implicated in later placental disease states, yet gene expression at this time is poorly understood. METHODS: RNA-sequencing was performed to characterize the transcriptome of 39 first trimester human placentas using chorionic villi following genetic testing (17 females, 22 males)...
January 15, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29333704/asian-horses-deepen-the-msy-phylogeny
#4
S Felkel, C Vogl, D Rigler, V Jagannathan, T Leeb, R Fries, M Neuditschko, S Rieder, B Velie, G Lindgren, C-J Rubin, C Schlötterer, T Rattei, G Brem, B Wallner
Humans have shaped the population history of the horse ever since domestication about 5500 years ago. Comparative analyses of the Y chromosome can illuminate the paternal origin of modern horse breeds. This may also reveal different breeding strategies that led to the formation of extant breeds. Recently, a horse Y-chromosomal phylogeny of modern horses based on 1.46 Mb of the male-specific Y (MSY) was generated. We extended this dataset with 52 samples from five European, two American and seven Asian breeds...
January 15, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29327450/the-black-legend-on-the-spanish-presence-in-the-low-countries-verifying-shared-beliefs-on-genetic-ancestry
#5
Maarten H D Larmuseau, Francesc Calafell, Sarah A Princen, Ronny Decorte, Violet Soen
OBJECTIVES: War atrocities committed by the Spanish army in the Low Countries during the 16th century are so ingrained in the collective memory of Belgian and Dutch societies that they generally assume a signature of this history to be present in their genetic ancestry. Historians claim this assumption is a consequence of the so-called "Black Legend" and negative propaganda portraying and remembering Spanish soldiers as extreme sexual aggressors. The impact of the presence of Spaniards during the Dutch Revolt on the genetic variation in the Low Countries has been verified in this study...
January 11, 2018: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/29320452/structural-and-evolutionary-relationships-in-the-giant-sex-chromosomes-of-three-microtus-species
#6
Luz Lamelas, María Arroyo, Francisco Javier Fernández, Juan Alberto Marchal, Antonio Sánchez
The genus Microtus has high karyotypic diversity. The existence of notable differences in the length of its sex chromosomes contributes to this variation. Variations in size are attributed to the enlargement of their heterochromatin content, which is of such magnitude in some species that they are referred to as "giant sex chromosomes". Here, we perform an intra- and interspecific analysis of the molecular composition of the heterochromatic blocks in three species with giant sex chromosomes (Microtus chrotorrhinus, M...
January 10, 2018: Genes
https://www.readbyqxmd.com/read/29317190/normal-pelvic-ultrasound-or-mri-does-not-rule-out-neoplasm-in-patients-with-gonadal-dysgenesis-and-y-chromosome-material
#7
Kristin M Ebert, Geri D Hewitt, Justin A Indyk, Katherine A McCracken, Leena Nahata, Venkata R Jayanthi
INTRODUCTION: Patients with gonadal dysgenesis (GD) with a Y chromosome have an increased risk of gonadal neoplasm. Few data exist on the ability of imaging to detect malignancy in intra-abdominal gonads in these patients. OBJECTIVE: We aimed to determine the correlation between preoperative imaging findings and gonadal pathology in GD patients with Y chromosome material. METHODS: A retrospective review was performed of patients with XY or XO/XY GD who underwent gonadectomy at our institution from 2003 to 2017...
December 23, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29306927/a-rare-unbalanced-y-autosome-translocation-in-a-turner-syndrome-patient
#8
Ruen Yao, Ding Yu, Jian Wang, Xiumin Wang, Yiping Shen
BACKGROUND: Y:autosome translocations are reported to be associated with male infertility and azoospermia. Female cases with Y:autosome translocation are extremely rare. CASE PRESENTATION: We report a unique case of a rare unbalanced translocation t(Y;13) in a 12-year-old girl with Turner syndrome. Combined cytogenetic testing helped to demonstrate the detail of rare chromosomal structural rearrangement in this patient. CONCLUSIONS: The presented case showed femaleness phenotype and failure of masculinization with presence of Y chromosome and the SRY gene...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29305586/efficient-generation-of-functional-haploid-spermatids-from-human-germline-stem-cells-by-three-dimensional-induced-system
#9
Min Sun, Qingqing Yuan, Minghui Niu, Hong Wang, Liping Wen, Chencheng Yao, Jingmei Hou, Zheng Chen, Hongyong Fu, Fan Zhou, Chong Li, Shaorong Gao, Wei-Qiang Gao, Zheng Li, Zuping He
Generation of functional spermatids from human spermatogonial stem cells (SSCs) in vitro is of utmost importance for uncovering mechanisms underlying human germ cell development and treating infertility. Here we report a three-dimensional-induced (3D-I) system by which human SSCs were efficiently differentiated into functional haploid spermatids. Human SSCs were isolated and identified phenotypically. Meiotic chromatin spreads and DNA content assays revealed that spermatocytes and haploid cells were effectively generated from human SSCs by 3D-I system...
January 5, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29301944/y-chromosome-lineage-determines-cardiovascular-organ-t-cell-infiltration-in-the-stroke-prone-spontaneously-hypertensive-rat
#10
Shanzana I Khan, Karen L Andrews, Kristy L Jackson, Basimah Memon, Ann-Maree Jefferis, Man K S Lee, Henry Diep, Zihui Wei, Grant R Drummond, Geoffrey A Head, Garry L Jennings, Andrew J Murphy, Antony Vinh, Amanda K Sampson, Jaye P F Chin-Dusting
The essential role of the Y chromosome in male sex determination has largely overshadowed the possibility that it may exert other biologic roles. Here, we show that Y-chromosome lineage is a strong determinant of perivascular and renal T-cell infiltration in the stroke-prone spontaneously hypertensive rat, which, in turn, may influence vascular function and blood pressure (BP). We also show, for the first time to our knowledge, that augmented perivascular T-cell levels can directly instigate vascular dysfunction, and that the production of reactive oxygen species that stimulate cyclo-oxygenase underlies this...
January 4, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29301188/a-boy-with-46-x-mar-presenting-gynecomastia-and-short-stature
#11
Ki Eun Kim, Ye Jin Kim, Mo Kyoung Jung, Hyun-Wook Chae, Ah Reum Kwon, Woo Jung Lee, Duk-Hee Kim, Ho-Seong Kim
A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29300758/loss-of-chromosome-y-in-blood-but-not-in-brain-of-suicide-completers
#12
Atsushi Kimura, Akitoyo Hishimoto, Ikuo Otsuka, Satoshi Okazaki, Shuken Boku, Tadasu Horai, Takeshi Izumi, Motonori Takahashi, Yasuhiro Ueno, Osamu Shirakawa, Ichiro Sora
Men have a higher rate of completed suicide than women, which suggests that sex chromosome abnormalities may be related to the pathophysiology of suicide. Recent studies have found an aberrant loss of chromosome Y (LOY) in various diseases; however, no study has investigated whether there is an association between LOY and suicide. The purpose of this study was to determine whether LOY occurs in men who completed suicide. Our study consisted of 286 male Japanese subjects comprised of 140 suicide completers without severe physical illness (130 post-mortem samples of peripheral blood and 10 brains) and 146 age-matched control subjects (130 peripheral blood samples from healthy individuals and 16 post-mortem brains)...
2018: PloS One
https://www.readbyqxmd.com/read/29290440/short-communication-two-dominant-paternal-lineages-for-north-american-jersey-artificial-insemination-sires
#13
C D Dechow, W S Liu, J S Idun, B Maness
Jersey cattle are the second most prominent breed in the United States and represent a growing portion of the dairy cow population in the United States. The objectives of our study were to determine the male lineages of Jersey sires with official genetic evaluations and to determine whether there are differences in sire conception rate among lineages. Paternal lineages back to the 1950s were extracted from genetic evaluation files of the Council on Dairy Cattle Breeding (CDCB, Bowie, MD) for all sires with an official United States genetic evaluation and that were enrolled with the National Association of Animal Breeders (Madison, WI)...
December 28, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29288348/whole-sequence-analysis-indicates-a-recent-southern-origin-of-mongolian-y-chromosome-c2c1a1a1-m407
#14
Yun-Zhi Huang, Lan-Hai Wei, Shi Yan, Shao-Qing Wen, Chuan-Chao Wang, Ya-Jun Yang, Ling-Xiang Wang, Yan Lu, Chao Zhang, Shu-Hua Xu, Da-Li Yao, Li Jin, Hui Li
The Y-chromosome haplogroup C2c1a1a1-M407 is a predominant paternal lineage in Mongolic-speaking populations, especially in Buryats and Kalmyks. However, the origin and internal phylogeny of C2c1a1a1-M407 have not been investigated in detail. In this study, we analyzed twenty-three Y-chromosome sequences of haplogroup C2c1a1a1-M407 and its most closely related clades. We generated a high-resolution phylogenetic tree of haplogroup C2c1a1a1-M407 and its upstream clade C2c1a1-CTS2657, including 32 subclades and 144 non-private Y-chromosome polymorphisms...
December 29, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29287619/all-iguana-families-with-the-exception-of-basilisks-share-sex-chromosomes
#15
Marie Altmanová, Michail Rovatsos, Martina Johnson Pokorná, Milan Veselý, Florian Wagner, Lukáš Kratochvíl
Once believed to be restricted only to endotherms (mammals and birds), several poikilothermic amniote lineages have recently been documented to possess long-term evolutionary stability in their sex chromosomes. However, many important lineages were not included in these tests. Previously, based on molecular evidence, we documented the homology of well-differentiated sex chromosomes among seven families of iguanas (Pleurodonta), with basilisks (Corytophanidae) being the only exception, as the tested genes linked to X, but missing on the Y chromosome, in other iguanas were autosomal or pseudoautosomal in basilisks...
November 22, 2017: Zoology: Analysis of Complex Systems, ZACS
https://www.readbyqxmd.com/read/29286555/gonadal-dysgenesis-is-associated-with-worse-outcomes-in-patients-with-ovarian-nondysgerminomatous-tumors-a-report-of-the-children-s-oncology-group-agct-0132-study
#16
Bryan J Dicken, Deborah F Billmire, Mark Krailo, Caihong Xia, Furqan Shaikh, John W Cullen, Thomas A Olson, Farzana Pashankar, Marcio H Malogolowkin, James F Amatruda, Frederick J Rescorla, Rachel A Egler, Jonathan H Ross, Carlos Rodriguez-Galindo, A Lindsay Frazier
PURPOSE: In this report, we characterize the timing and behavior of malignant ovarian germ cell tumors (GCTs) in pediatric patients with dysgenetic gonads compared to those with normal gonadal development. PATIENTS AND METHODS: Patients from the Children's Oncology Group AGCT0132 with malignant ovarian GCTs were included. Within this population, we sought to identify patients with gonadoblastoma, streak ovaries, or other evidence of gonadal dysgenesis (GD). Patients with malignant GCTs containing one or more of the following histologies-yolk sac tumor, embryonal carcinoma, or choriocarcinoma-were included...
December 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29285373/successful-detection-of-sry-gene-via-fine-needle-biopsy-a-case-of-extragenital-gestational-choriocarcinoma-in-the-kidney
#17
Shunsuke Orisaka, Kyosuke Kagami, Yasunari Mizumoto, Wataru Koda, Masanori Ono, Mitsuhiro Nakamura, Hiroshi Fujiwara
The current report describes a case of extragenital gestational choriocarcinoma in the kidney. A 36-year-old woman with a history of two deliveries of male babies visited the present hospital due to secondary amenorrhea following a positive urinary pregnancy test. Despite a high serum level of human chorionic gonadotropin, at 51,800 mIU/ml, diagnostic imaging methods and pathological examination did not detect any conceptus in the genital tract. Positron emission tomography-computed tomography detected 18F-FDG-positive tumors in the left kidney and right lung...
December 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29284187/sex-antagonistic-genes-xy-recombination-and-feminized-y-chromosomes
#18
Elisa Cavoto, Samuel Neuenschwander, Jérôme Goudet, Nicolas Perrin
The canonical model of sex-chromosome evolution predicts that sex-antagonistic (SA) genes play an instrumental role in the arrest of XY recombination and ensuing Y-chromosome degeneration. Although this model might account for the highly differentiated sex chromosomes of birds and mammals, it does not fit the situation of many lineages of fish, amphibians or non-avian reptiles, where sex chromosomes are maintained homomorphic through occasional XY recombination and/or high turnover rates. Such situations call for alternative explanatory frameworks...
December 28, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/29282760/development-and-implementation-of-a-novel-panel-consisting-20-markers-for-the-detection-of-genetic-causes-of-male-infertility
#19
S Bahrami Zadegan, S Dabbagh Bagheri, A Joudaki, M H Samiee Aref, A H Saeidian, M Abiri, S Zeinali
Azoospermia factor (AZF) genes are involved in spermatogenesis. Deletions in the region of these genes have been recognised as a major genetic cause of infertility due to defects in spermatogenesis. Klinefelter syndrome (KS) is the other main cause of male infertility. This study was performed to establish a novel method for the detection of genetic causes of infertility in males and also to investigate the prevalence, extent and position of Y chromosome microdeletions in Iranian infertile men. We developed a newly designed panel of fluorescent multiplex-PCR method to amplify 20 markers (15 sequence-tagged sites (STSs) markers which are placed in the Y chromosome AZF region, 2 short tandem repeats (STRs) and 3 segmental duplications (SDs))...
December 28, 2017: Andrologia
https://www.readbyqxmd.com/read/29275088/genetic-analysis-of-southern-brazil-subjects-using-the-powerseq%C3%A2-auto-y-system-for-short-tandem-repeat-sequencing
#20
Deborah S B S Silva, Fernanda R Sawitzki, Melissa K R Scheible, Sarah F Bailey, Clarice S Alho, Seth A Faith
With the advent of Next-Generation Sequencing technology, sequencing of short tandem repeats (STRs) allows for a more detailed analysis when compared to size-based fragment methods (capillary electrophoresis-CE). The implementation of high-throughput sequencing can help uncover deeper genetic diversities of different populations. Subjects from the South region of Brazil present a particular and more homogeneous ancestry background when compared to other regions of the country. Both autosomal and Y- STRs have been analyzed in these individuals; however, all analyses published to date encompass data from CE-based fragment analysis...
December 16, 2017: Forensic Science International. Genetics
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