Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONs on chromosome 9

1978 ◽  
Vol 22 (1-6) ◽  
pp. 456-460 ◽  
Author(s):  
T. Mohandas ◽  
R.S. Sparkes ◽  
M.C. Sparkes ◽  
J.D. Shulkin ◽  
K.E. Toomey ◽  
...  
Keyword(s):  
Chromosome 9 ◽  
Regional Localization

Examination of the dynamics of global DNA methylation pattern establishment during spermatogenesiss

2007 ◽  
Vol 30 (4) ◽  
pp. 90
Author(s):  
Kirsten Niles ◽  
Sophie La Salle ◽  
Christopher Oakes ◽  
Jacquetta Trasler
Keyword(s):  
Dna Methylation ◽  
Germ Cell ◽  
Germ Cells ◽  
Epigenetic Modification ◽  
Methylation Pattern ◽  
Chromosome 9 ◽  
Specific Gene ◽  
Global Methylation ◽  
Dna Methylation Pattern ◽  
Methylation Patterns

Background: DNA methylation is an epigenetic modification involved in gene expression, genome stability, and genomic imprinting. In the male, methylation patterns are initially erased in primordial germ cells (PGCs) as they enter the gonadal ridge; methylation patterns are then acquired on CpG dinucleotides during gametogenesis. Correct pattern establishment is essential for normal spermatogenesis. To date, the characterization and timing of methylation pattern acquisition in PGCs has been described using a limited number of specific gene loci. This study aimed to describe DNA methylation pattern establishment dynamics during male gametogenesis through global methylation profiling techniques in a mouse model. Methods: Using a chromosome based approach, primers were designed for 24 regions spanning chromosome 9; intergenic, non-repeat, non-CpG island sequences were chosen for study based on previous evidence that these types of sequences are targets for testis-specific methylation events. The percent methylation was determined in each region by quantitative analysis of DNA methylation using real-time PCR (qAMP). The germ cell-specific pattern was determined by comparing methylation between spermatozoa and liver. To examine methylation in developing germ cells, spermatogonia from 2 day- and 6 day-old Oct4-GFP (green fluorescent protein) mice were isolated using fluorescence activated cell sorting. Results: As compared to liver, four loci were hypomethylated and five loci were hypermethylated in spermatozoa, supporting previous results indicating a unique methylation pattern in male germ cells. Only one region was hypomethylated and no regions were hypermethylated in day 6 spermatogonia as compared to mature spermatozoa, signifying that the bulk of DNA methylation is established prior to type A spermatogonia. The methylation in day 2 spermatogonia, germ cells that are just commencing mitosis, revealed differences of 15-20% compared to day 6 spermatogonia at five regions indicating that the most crucial phase of DNA methylation acquisition occurs prenatally. Conclusion: Together, these studies provide further evidence that germ cell methylation patterns differ from those in somatic tissues and suggest that much of methylation at intergenic sites is acquired during prenatal germ cell development. (Supported by CIHR)

THE CASE VARIANT TRANSLOCATION T(3;9;22)(P24;Q34;Q11) IN CHRONIC MYELOID LEUKEMIA

2018 ◽  
Vol 64 (6) ◽  
pp. 810-814
Author(s):  
Kodirzhon Boboev ◽  
Yuliana Assesorova ◽  
Kh. Karimov ◽  
B. Allanazarova
Keyword(s):  
Adverse Effect ◽  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Genetic Locus ◽  
Philadelphia Chromosome ◽  
Chromosome 9 ◽  
Banding Technique ◽  
Variant Translocation

This paper presents a case of chronic myeloid leukemia with an earlier unknown variant translocation t (3; 9; 22) (p24; q34; q11) detected by cytogenetic research using the GTG-banding technique. Despite the absence of the classical Philadelphia chromosome, the presence of chromosome 9 and 22 derivatives, as well as the BCR-ABL fusion gene, allow this translocation to be considered pathogenetic for CML. A good response of the patient to the treatment with glivec is that there is no adverse effect on the pathogenesis of the disease of an additional genetic locus (3p24) involved in complex restructuring.

Autoimmunity and Frontotemporal Dementia

2018 ◽  
Vol 15 (7) ◽  
pp. 602-609 ◽  
Author(s):  
Antonella Alberici ◽  
Viviana Cristillo ◽  
Stefano Gazzina ◽  
Alberto Benussi ◽  
Alessandro Padovani ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Language Impairment ◽  
Neurodegenerative Disorder ◽  
Chromosome 9 ◽  
Bibliographic Databases ◽  
Extensive Literature ◽  
Genetic Studies ◽  
Reading Frame ◽  
Current State ◽  
Extensive Evaluation

Background: Frontotemporal Dementia (FTD) is a neurodegenerative disorder which asymmetrically affects the frontotemporal lobe, characterized by behavioural abnormalities, language impairment, and deficits of executive functions. Genetic studies identified mutations causing the disease, namely Microtubule Associated Protein Tau (MAPT), Granulin (GRN) and chromosome 9 open reading frame 72 (C9orf72) mutations, which contributed to elucidate the molecular pathways involved in brain depositions of either Tau or TAR DNA-binding protein 43 (TDP43) inclusions. However, in the majority of sporadic FTD patients, the mechanisms triggering Tau or TDP43 protein deposition are still to be uncovered. Objective: We aimed to present an extensive evaluation of literature data on immune homeostasis in FTD, in order to provide potentially evidence-based approaches for a disease still orphan of any treatment. Methods: A structured search of bibliographic databases from peer-reviewed literature was pursued focusing on autoimmunity in the brain and FTD. Results: One-hundred-fourteen papers were included in this review. The majority of studies (32) were represented by extensive literature revision on immunity, central nervous system (CNS) and autoimmunity; neuroimaging papers (11) in autoimmune diseases were evaluated, and immunomodulatory approaches (25) were revised. Six papers were found specifically related to FTD and autoimmune hypothesis, the other papers referring to current state of art on FTD. Conclusion: Overall this review contribute to expand the knowledge of a possible immune hypothesis in FTD, suggesting therapeutic perspectives in autoimmune related neurodegeneration, to reduce or revert the disease.

scholarly journals Production and Characterization of Maize Chromosome 9 Radiation Hybrids Derived From an Oat-Maize Addition Line

Genetics ◽  
2000 ◽  
Vol 156 (1) ◽  
pp. 327-339 ◽  
Author(s):  
O Riera-Lizarazu ◽  
M I Vales ◽  
E V Ananiev ◽  
H W Rines ◽  
R L Phillips
Keyword(s):  
Radiation Hybrid ◽  
Chromosome Region ◽  
Chromosome 9 ◽  
Addition Line ◽  
Addition Lines ◽  
Organization Studies ◽  
Maize Chromosome ◽  
Chromosome Addition ◽  
Radiation Hybrids ◽  
Chromosome Addition Lines

Abstract In maize (Zea mays L., 2n = 2x = 20), map-based cloning and genome organization studies are often complicated because of the complexity of the genome. Maize chromosome addition lines of hexaploid cultivated oat (Avena sativa L., 2n = 6x = 42), where maize chromosomes can be individually manipulated, represent unique materials for maize genome analysis. Maize chromosome addition lines are particularly suitable for the dissection of a single maize chromosome using radiation because cultivated oat is an allohexaploid in which multiple copies of the oat basic genome provide buffering to chromosomal aberrations and other mutations. Irradiation (gamma rays at 30, 40, and 50 krad) of a monosomic maize chromosome 9 addition line produced maize chromosome 9 radiation hybrids (M9RHs)—oat lines possessing different fragments of maize chromosome 9 including intergenomic translocations and modified maize addition chromosomes with internal and terminal deletions. M9RHs with 1 to 10 radiation-induced breaks per chromosome were identified. We estimated that a panel of 100 informative M9RHs (with an average of 3 breaks per chromosome) would allow mapping at the 0.5- to 1.0-Mb level of resolution. Because mapping with maize chromosome addition lines and radiation hybrid derivatives involves assays for the presence or absence of a given marker, monomorphic markers can be quickly and efficiently mapped to a chromosome region. Radiation hybrid derivatives also represent sources of region-specific DNA for cloning of genes or DNA markers.

scholarly journals MOLECULAR GENETIC ANALYSIS OF THE DILUTE-SHORT EAR (d-se) REGION OF THE MOUSE

Genetics ◽  
1986 ◽  
Vol 112 (2) ◽  
pp. 321-342
Author(s):  
Eugene M Rinchik ◽  
Liane B Russell ◽  
Neal G Copeland ◽  
Nancy A Jenkins
Keyword(s):  
Physical Map ◽  
Leukemia Virus ◽  
Molecular Genetic ◽  
Break Point ◽  
Virus Genome ◽  
Molecular Genetic Analysis ◽  
Chromosome 9 ◽  
Genetic Complementation ◽  
Induced Mutations ◽  
Radiation Induced

ABSTRACT Genes of the dilute-short ear (d-se) region of mouse chromosome 9 comprise an array of loci important to the normal development of the animal. Over 200 spontaneous, chemically induced and radiation-induced mutations at these loci have been identified, making it one of the most genetically well-characterized regions of the mouse. Molecular analysis of this region has recently become feasible by the identification of a dilute mutation that was induced by integration of an ecotropic murine leukemia virus genome. Several unique sequence cellular DNA probes flanking this provirus have now been identified and used to investigate the organization of wild-type chromosomes and chromosomes with radiation-induced d-se region mutations. As expected, several of these mutations are associated with deletions, and, in general, the molecular and genetic complementation maps of these mutants are concordant. Furthermore, a deletion break-point fusion fragment has been identified and has been used to orient the physical map of the d-se region with respect to the genetic complementation map. These experiments provide important initial steps for analyzing this developmentally important region at the molecular level, as well as for studying in detail how a diverse group of mutagens acts on the mammalian germline.

scholarly journals Genetic loci regulating cadmium content in rice grains

Euphytica ◽  
2021 ◽  
Vol 217 (3) ◽  
Author(s):  
Gareth J. Norton ◽  
Anthony Travis ◽  
Panthita Ruang-areerate ◽  
Graeme W. Nicol ◽  
Ayotunde A. Adeosun ◽  
...  
Keyword(s):  
Water Treatment ◽  
Water Regime ◽  
Field Experiments ◽  
Cadmium Concentration ◽  
Chromosome 9 ◽  
Chromosome 7 ◽  
Cadmium Content ◽  
Rice Grains ◽  
Water Treatments ◽  
Grain Cadmium

AbstractIt has been estimated that up to 90% of human exposure to cadmium is through food, and that cadmium within rice grains can be a major contributor to that dietary source. In this study genome wide association mapping was conducted on the Bengal and Assam Aus Panel (BAAP) of rice to identify quantitative trait loci and candidate genes for lowering grain cadmium. Field experiments were conducted over two years under two different irrigation systems: continually flooded and alternate wetting and drying (AWD). There was significant effects of water treatment, genotype, and genotype by water treatment interaction. Importantly, AWD increased grain cadmium, on average, by 49.6% and 108.8% in year 1 and 2 respectively. There was between 4.6 and 28 fold variation in cadmium concentration. A total of 58 QTLs were detected but no loci are clearly specific to one water regime despite approximately 20% of variation attributable to genotype by water regime interaction. A number of QTLs were consistent across most water treatments and years. These included QTLs on chromosome 7 (7.23–7.61, 8.93–9.04, and 29.12–29.14 Mbp), chromosome 5 (8.66–8.72 Mbp), and chromosome 9 (11.46–11.64 Mbp). Further analysis of the loci on chromosome 7 (8.93–9.04 Mbp), identified the candidate gene OsNRAMP1, where cultivars with a deletion upstream of the gene had higher concentrations of cadmium compared to the cultivars that did not have the deletion. The distribution of alleles within the BAAP suggest this QTL is easily detected in this population because it is composed of aus cultivars. Local genome cluster analysis suggest high Cd alleles are uncommon, but should be avoided in breeding.

CROSSING OVER AND DIPLOID EGG FORMATION IN THE ELONGATE MUTANT OF MAIZE

Genetics ◽  
1975 ◽  
Vol 79 (3) ◽  
pp. 435-450
Author(s):  
P M Nel
Keyword(s):  
Chromosome 9 ◽  
Meiotic Spindle ◽  
Crossing Over ◽  
Chromosome 5 ◽  
Basic Difference ◽  
Egg Formation ◽  
Preferential Segregation ◽  
Centric Region ◽  
Female Values ◽  
Female Flowers

ABSTRACT Rhoades (1941) found recombination in the proximal regions of chromosome 5 to be higher in male than in female flowers. Two explanations were proposed to account for the lower female values, namely: (1) there is a basic difference in rates of crossing over in mega- and microsporocytes, or (2) selective orientation of the chromosome 5 bivalent on the meiotic spindle leads to the preferential segregation of noncrossover chromatids to the basal megaspore. These alternatives have been tested by carrying out a half-tetrad analysis of the diploid eggs produced by plants homozygous for the recessive elongate (el) allele. The A2—Bt crossover values determined from the diploid eggs of elongate plants were much lower than those calculated from haploid sperm of both El el and el el plants. Since male and female flowers should have similar cross-over values if the orientation hypothesis were correct, it was concluded that the amount of crossing over in the A2-Bt region of chromosome 5 is intrinsically higher in male than in female meiocytes. In the analysis of diploid eggs the use of the Bt locus, which marks the centric region of chromosome 5, provided information on the origin of diploid eggs. The genotypic constitution of 425 diploid eggs was ascertained. Of these, 20.4% were Bt bt. They could not be accounted for by failure of the second meiotic division or by replication during the interphase between the two meiotic divisions, but are expected if there is a single division with an equational separation of the centromere regions of chromosome 5. The Bt Bt and bt bt genotypes arise from a disjunctional separation. It is proposed that diploid eggs are produced by an abnormal meiosis in which there is one division with either disjunctional or equational separation. Disjunctional separation is more frequent but the ratio of the two types varies from ear to ear. Recombination in the A2-Bt-Pr region of chromosome 5 was found to be higher in the haploid gametes of elongate homozygotes than in El El and El el plants. On the other hand, crossing over was reduced in the Sh-Bz segment of chromosome 9 in elongate plants, but the adjacent Bz—Wx interval was unaffected.

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