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Cytogenetic and Genome Research

Holger Höhn
No abstract text is available yet for this article.
October 17, 2018: Cytogenetic and Genome Research
Hongjin Wang, Zhihui Yu, Bin Li, Tao Lang, Guangrong Li, Zujun Yang
Dasypyrum breviaristatum (genome VbVb) contains potentially important traits for commercial wheat production. Chromosome 2Vb of D. breviaristatum carries several desirable agronomic characters, including long spike length as well as enhanced resistance to stripe rust, which are expressed in a common wheat background. In this study, wheat-D. breviaristatum 2Vb deletion lines were produced and identified by fluorescence in situ hybridization (FISH), and 74 molecular markers specific to D. breviaristatum chromosome 2Vb were physically localized in 4 distinct chromosomal regions...
October 12, 2018: Cytogenetic and Genome Research
Kimberly M Davenport, Stephanie McKay, Alan G Fahey, Clare Gill, Brenda M Murdoch
Meiotic recombination is an important contributor to genetic variation and ensures proper chromosome segregation during gametogenesis. Previous studies suggest that at least 1 crossover (CO) per chromosome arm is important to avoid mis-segregation. While the total number of COs per spermatocyte is known to differ in mice, this is only beginning to be evaluated in sheep. This study used a cytogenetic approach to quantify and compare the number of COs per spermatocyte in rams from 3 breeds of sheep: Suffolk, Icelandic, and Targhee...
October 9, 2018: Cytogenetic and Genome Research
Ilária C Sgardioli, Elaine Lustosa-Mendes, Ana P Dos Santos, Társis P Vieira, Vera L Gil-da-Silva-Lopes
A female individual with concomitant deletions in 15q11.2 and 19p13.3 is reported. She presents facial dysmorphisms, motor delay, learning difficulties, and mild behavioral impairment. After chromosomal microarray analysis, the final karyotype was established as 46,XX.arr[GRCh37] 15q11.2 (22770421_23282798)×1,19p13.3(3793904_4816330)×1. The deletion in 15q11.2 is 507 kb in size involving 7 non-imprinted genes, 4 of which are registered in the OMIM database and are implicated in neuropsychiatric or neurodevelopmental disorders...
October 9, 2018: Cytogenetic and Genome Research
Amy Inkster, Mary Ann Thomas, Nadine S Gamache, Michael Chan, Pernilla Stenroos, Judy E Chernos, Bob Argiropoulos
The aim of this study was to investigate the origin of the biallelic trisomic amplification pattern of the X chromosome microsatellite marker DXS1187 in an otherwise normal male fetus, identified on routine rapid aneuploidy detection (RAD) testing by quantitative fluorescent-polymerase chain reaction (QF-PCR). Amniocentesis was performed on a 35-year-old female at 15 weeks, 2 days gestation for a positive first trimester screen. QF-PCR, metaphase FISH, and chromosomal microarray were carried out on both maternal and fetal DNA...
October 5, 2018: Cytogenetic and Genome Research
Zhishuo Z Ou, Sally Kochmar, Svetlana A Yatsenko, Audrey C Woerner, Roxanne Acquaro, Damara Ortiz, Urvashi Surti, Jie Hu
We describe a 5-month-old female who presented with clinical features of 5p deletion syndrome, including high-pitched cry, microcephaly, micrognathia, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay. In addition, the patient also had a cardiac defect, proximal esophageal atresia, and distal tracheoesophageal fistula. aCGH of the patient revealed a 22.9-Mb deletion of chromosome 5p15.33p14.3 and an 8.28-Mb duplication of chromosome 5q12...
October 5, 2018: Cytogenetic and Genome Research
Amal Mahmoud Mohamed, Maha S Zaki, Alaa K Kamel, Mahmoud Y Issa, Mona Mekkawy, Peter Safwat, Inas Mazen
We report on a female patient who was first evaluated at the age of 6 years with developmental delay, dysmorphic facial features, seizures, and autistic behavior. A brain CT showed complete agenesis of the corpus callosum, and EEG recorded bilateral epileptogenic foci. Karyotype analysis revealed 45,X,psu dic(14;X)(p11;p22). FISH using 14q and Xp subtelomeric probes, combined with a SHOX gene-specific probe, and centromere X and XIST gene analysis revealed ish psu dic(14;X)(D14S1420+; DXYS129-, SHOX-, DXZ1+, XIST+)...
September 29, 2018: Cytogenetic and Genome Research
Dinaíza A Rocha-Reis, Karina de Oliveira Brandão, Lurdes F de Almeida-Toledo, Rubens Pazza, Karine F Kavalco
The genus Hypostomus has a broad geographic distribution in Brazilian rivers and comprises armored catfishes with a very complicated taxonomy due to the absence of morphological autapomorphies. The existence of nearly 10 allopatric populations with different karyotypes suggests that Hypostomusancistroides represents a species complex in the Upper Paraná River basin. In this paper, an unusual karyotype of an isolated H. aff. ancistroides population was investigated. All specimens of this sample have 2n = 66 chromosomes except for 1 male with 2n = 67, most likely due to a supernumerary chromosome...
September 28, 2018: Cytogenetic and Genome Research
Elisa Tassano, Sara Uccella, Thea Giacomini, Pasquale Striano, Mariasavina Severino, Simona Porta, Giorgio Gimelli, Patrizia Ronchetto
ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and intellectual disability. Both genes play pivotal roles in brain development. In particular, ULK4 encodes serine/threonine kinases that are critical for the development and function of the nervous system, while BRWD3 plays a crucial role in ubiquitination, as part of the ubiquitin/proteasome system. We report on 2 brothers, aged 7.6 and 20 years, presenting with cognitive impairment, epilepsy, autistic features, hearing loss, and obesity...
August 8, 2018: Cytogenetic and Genome Research
Filomena Adega, Raquel Matoso Silva, Helena J Kjöllerström, Paul Vercammen, Terje Raudsepp, Maria J Collares-Pereira, Carlos Fernandes, Maria do Mar Oom, Raquel Chaves
Mammalian carnivores have been extensively studied by cross-species chromosome painting, which indicated a high degree of karyotypic conservatism in the cat-like suborder Feliformia relative to the ancestral carnivore karyotype (ACK). The first exception to this high degree of karyotypic conservation in feliforms was recently confirmed in genets, mesocarnivores belonging to the basal family Viverridae. Here, we present a comparative analysis of the chromosome rearrangements among 2 subspecies of the small-spotted genet Genetta genetta (the Iberian nominate and the Arabian grantii) and the panther genet G...
August 8, 2018: Cytogenetic and Genome Research
Blake C Ballif, Christina J Ramirez, Casey R Carl, Kyle Sundin, Melissa Krug, Adam Zahand, Lisa G Shaffer, Helen Flores-Smith
Merle is a distinct coat color and pattern found in numerous species, including the domestic dog, characterized by patches of diluted eumelanin (black pigment) interspersed among areas of normal pigmentation. In dogs, this variegated pattern is caused by an insertion of a SINE element into the canine PMEL gene. Although variation in the length of the SINE insertion - due to a variable-length poly(A) tail - has been observed to be associated with variation in merle coat color and patterning, no systematic evaluation of this correlation has been conducted and published in the scientific literature...
August 3, 2018: Cytogenetic and Genome Research
Leonardo G Goll, Roberto F Artoni, Maria C Gross, Lucas R A Mello, Maria P B Coelho, Mara C Almeida, Carlos H Schneider
The chromosomes of 2 flea beetle species from central Amazonia, Omophoita abbreviata and O. aequinoctialis (Alticini), were investigated through analysis of meiotic and mitotic cells. These species belong to the subtribe Oedionychina, a taxon that has unique cytogenetic features, such as giant sex chromosomes which are aligned at a distance during meiosis I (asynaptic). O. abbreviata and O. aequinoctialis have a meiotic formula of 10II + X + y, which is predominant in this subtribe. While the species of the genus Omophoita possess a relatively stable karyotype, a typical feature for Oedionychina, the present study identified inter- and intrapopulational variation in chromosome morphology, constitutive heterochromatin, and the presence and number of B chromosomes in O...
July 20, 2018: Cytogenetic and Genome Research
Nuria C Bramswig, Karin Buiting, Natalie Bechtel, Bernhard Horsthemke, Kevin Rostasy, Dagmar Wieczorek
Angelman syndrome (AS) is a neurodevelopmental disorder caused by deletion of the maternally inherited 15q11q13 region, paternal uniparental disomy 15 [upd(15)pat], an imprinting defect of the maternal chromosome region 15q11q13, or a pathogenic mutation of the maternal UBE3A allele. Predisposing factors for upd(15)pat, such as nonhomologous robertsonian translocation involving chromosome 15, have been discussed, but no evidence for this predisposition has been published. In the present study, chromosomal analysis was performed in a child with AS, both parents, and the maternal grandparents...
July 18, 2018: Cytogenetic and Genome Research
Akash Sookdeo, Manuel Ruiz-García, Horacio Schneider, Stéphane Boissinot
LINE-1 (L1) retrotransposons constitute the dominant category of transposons in mammalian genomes. L1 elements are active in the vast majority of mammals, and only a few cases of L1 extinction have been documented. The only possible case of extinction in primates was suggested for South American spider monkeys. However, these previous studies were based on a single species. We revisited this question with a larger phylogenetic sample, covering all 4 genera of Atelidae and 3 species of spider monkeys. We used an enrichment method to clone recently inserted L1 elements and performed an evolutionary analysis of the sequences...
2018: Cytogenetic and Genome Research
(no author information available yet)
No abstract text is available yet for this article.
2018: Cytogenetic and Genome Research
Changru Fan, Jinju Liu, Jianhai Tian, Yuliang Zhang, Maojun Yan, Chaoyu Zhu
The aim of the study was to evaluate the effects of synuclein-γ (SNCG) silencing on gastric cancer SGC7901 cells and to elucidate the associated mechanisms. pGCSIL-lentiviral siRNA targeting of the SNCG gene was employed to inhibit SNCG expression. Several experiments such as quantitative real-time PCR, Western blotting, MTT, colony formation, migration assay, and flow cytometry were performed to investigate the biological behavior of infected SGC7901 cells. BALB/c nude mice were used as tumor xenograft models to assess the effects of SNCG silencing on tumor growth...
2018: Cytogenetic and Genome Research
Elifcan Taşdelen, Ceren D Durmaz, Halil G Karabulut
Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ODDD is caused by mutations in the GJA1 gene in chromosome 6q22 and inherited in an autosomal dominant manner in the majority of the patients. However, in recent clinical reports, autosomal recessive ODDD cases due to by GJA1 mutations were also described. Here, we report on a 14-year-old boy with microphthalmia, microcornea, narrow nasal bridge, hypoplastic alae nasi, prominent columnella, hypodontia, dental caries, and partial syndactyly of the 2nd and 3rd toes...
2018: Cytogenetic and Genome Research
Federica Baldan, Chiara Gnan, Alessandra Franzoni, Lucia Ferino, Lorenzo Allegri, Nadia Passon, Giuseppe Damante
Mutations/deletions of the IMMP2L gene have been associated with different cognitive/behavioral disturbances, including autism spectrum disorders (ASD). The penetrance of these defects is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subjects harboring a deletion inside the IMMP2L gene. In both cases, the IMMP2L gene deletion was inherited: from a healthy mother in one case and from a dyslectic father in the other. In the latter family, the IMMP2L deletion was also detected in the patient's brother, who showed delayed language development...
2018: Cytogenetic and Genome Research
Nicolas Mary, Stéphane Ferchaud, Harmonie Barasc, Anne Calgaro, Nathalie Bonnet, Alain Ducos, Alain Pinton
Meiotic recombination parameters like crossover (CO) rate or synaptonemal complex (SC) length are known to vary strongly between individuals and between cells from the same individual. The origins of this variability remain elusive, and little is known about the variations that might occur between different samples and/or over time within the same individual. To document this question, pachytene cells from 3 boars of the Large White breed were analyzed twice, at a 1-year interval, using immunocytological techniques...
2018: Cytogenetic and Genome Research
Ang Li, Ying-Xia Cui, Xing Lv, Jian-Hong Liu, Er-Zhi Gao, Xiu-Xiu Wei, Xin-Yi Xia, Chun-Lin Gao, Feng-Xia Liu, Zheng-Kun Xia, Asan, Zhi-Hong Liu, Xiao-Jun Li
Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome or benign familial hematuria. Recently, the existence of a digenic inheritance in Alport syndrome has been demonstrated. We here report heterozygous COL4A3 and COL4A4 digenic mutations in cis responsible for benign familial hematuria. Using bioinformatics analyses and pedigree verification, we showed that COL4A4 c...
2018: Cytogenetic and Genome Research
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