scholarly journals Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome

1999 ◽  
Vol 64 (4) ◽  
pp. 1076-1086 ◽  
Author(s):  
Lisa Edelmann ◽  
Raj K. Pandita ◽  
Bernice E. Morrow
Keyword(s):  
Low Copy Repeats ◽  
The Common ◽  
Velo Cardio Facial Syndrome

scholarly journals Two Functional Copies of the DGCR6 Gene Are Present on Human Chromosome 22q11 Due to a Duplication of an Ancestral Locus

2001 ◽  
Vol 11 (2) ◽  
pp. 208-217
Author(s):  
Lisa Edelmann ◽  
Pavel Stankiewicz ◽  
Elizabeth Spiteri ◽  
Raj K. Pandita ◽  
Lisa Shaffer ◽  
...  
Keyword(s):  
Sequence Similarity ◽  
Primate Species ◽  
Region Gene ◽  
Chromosome 22Q11 ◽  
Expression Studies ◽  
Low Copy Repeats ◽  
Duplicate Locus ◽  
Human Chromosome 22Q11 ◽  
Velo Cardio Facial Syndrome ◽  
Functional Copy

The DGCR6 (DiGeorge critical region) gene encodes a putative protein with sequence similarity to gonadal(gdl), a Drosophila melanogaster gene of unknown function. We mapped the DGCR6 gene to chromosome 22q11 within a low copy repeat, termed sc11.1a, and identified a second copy of the gene, DGCR6L, within the duplicate locus, termed sc11.1b. Both sc11.1 repeats are deleted in most persons with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), and they map immediately adjacent and internal to the low copy repeats, termed LCR22, that mediate the deletions associated with VCFS/DGS. We sequenced genomic clones from both loci and determined that the putative initiator methionine is located further upstream than originally described, but in a position similar to the mouse and chicken orthologs.DGCR6L encodes a highly homologous, functional copy ofDGCR6, with some base changes rendering amino acid differences. Expression studies of the two genes indicate that both genes are widely expressed in fetal and adult tissues. Evolutionary studies using FISH mapping in several different species of ape combined with sequence analysis of DGCR6 in a number of different primate species indicate that the duplication is at least 12 million years old and may date back to before the divergence of Catarrhines from Platyrrhines, 35 mya. These data suggest that there has been selective evolutionary pressure toward the functional maintenance of both paralogs. Interestingly, a full-length HERV-K provirus integrated into the sc11.1a locus after the divergence of chimpanzees and humans.

scholarly journals 22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature

2020 ◽  
Vol 09 (03) ◽  
pp. 211-220
Author(s):  
Aderonke Oyetunji ◽  
Merlin G. Butler
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
High Resolution ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 22Q11.2 ◽  
Low Copy Repeats ◽  
Velo Cardio Facial Syndrome ◽  
Male Subjects

AbstractWe present two male subjects (6 and 14 years old) with mild dysmorphism, intellectual disability, and/or autism spectrum disorder with chromosome 22q11.2 microduplications of different sizes. We then compared the clinical and genetic findings with similar cases from the literature sharing the same 22q11.2 duplications. These rare duplications in our subjects were identified by high-resolution chromosomal microarray analysis and flanked by low copy repeats in the 22q11.2 region, specifically LCR22A, LCR22B, and LCR22D. The typical 22q11.2 defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome and not duplications of varying sizes as seen in our male subjects.

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

2003 ◽  
Vol 22 (5) ◽  
pp. 378-387 ◽  
Author(s):  
Naohiro Kurotaki ◽  
Naoki Harada ◽  
Osamu Shimokawa ◽  
Noriko Miyake ◽  
Hiroshi Kawame ◽  
...  
Keyword(s):  
Sotos Syndrome ◽  
Low Copy Repeats ◽  
The Common ◽  
Common Deletion

Catalogue reduction techniques

1978 ◽  
Vol 48 ◽  
pp. 389-390 ◽  
Author(s):  
Chr. de Vegt
Keyword(s):  
Adjustment Process ◽  
Proper Motions ◽  
Measuring Process ◽  
Aerial Photogrammetry ◽  
Reduction Techniques ◽  
Observational Technique ◽  
The Common ◽  
Astrometric Data

AbstractReduction techniques as applied to astrometric data material tend to split up traditionally into at least two different classes according to the observational technique used, namely transit circle observations and photographic observations. Although it is not realized fully in practice at present, the application of a blockadjustment technique for all kind of catalogue reductions is suggested. The term blockadjustment shall denote in this context the common adjustment of the principal unknowns which are the positions, proper motions and certain reduction parameters modelling the systematic properties of the observational process. Especially for old epoch catalogue data we frequently meet the situation that no independent detailed information on the telescope properties and other instrumental parameters, describing for example the measuring process, is available from special calibration observations or measurements; therefore the adjustment process should be highly self-calibrating, that means: all necessary information has to be extracted from the catalogue data themselves. Successful applications of this concept have been made already in the field of aerial photogrammetry.

Renilla Bioluminescence: A Morphologic Approach to the Location of Photocytes

1974 ◽  
Vol 32 ◽  
pp. 208-209
Author(s):  
Ben O. Spurlock ◽  
Milton J. Cormier
Keyword(s):  
Excited State ◽  
Ground State ◽  
Molecular Basis ◽  
Light Emission ◽  
Chemical Basis ◽  
Electronic Excited State ◽  
Colonial Form ◽  
The Common ◽  
Eighteenth And Nineteenth Centuries ◽  
Catalyzed Oxidation

The phenomenon of bioluminescence has fascinated layman and scientist alike for many centuries. During the eighteenth and nineteenth centuries a number of observations were reported on the physiology of bioluminescence in Renilla, the common sea pansy. More recently biochemists have directed their attention to the molecular basis of luminosity in this colonial form. These studies have centered primarily on defining the chemical basis for bioluminescence and its control. It is now established that bioluminescence in Renilla arises due to the luciferase-catalyzed oxidation of luciferin. This results in the creation of a product (oxyluciferin) in an electronic excited state. The transition of oxyluciferin from its excited state to the ground state leads to light emission.

Mammalian Bone Marrow Acetylcholinesterase

1982 ◽  
Vol 40 ◽  
pp. 44-45
Author(s):  
Ezzatollah Keyhani
Keyword(s):  
Central Nervous System ◽  
Bone Marrow ◽  
Nervous System ◽  
Common Property ◽  
Extracellular Medium ◽  
The Central Nervous System ◽  
The Common ◽  
Mammalian Bone

Acetylcholinesterase (EC 3.1.1.7) (ACHE) has been localized at cholinergic junctions both in the central nervous system and at the periphery and it functions in neurotransmission. ACHE was also found in other tissues without involvement in neurotransmission, but exhibiting the common property of transporting water and ions. This communication describes intracellular ACHE in mammalian bone marrow and its secretion into the extracellular medium.

Correlation analysis of radiation damage

1978 ◽  
Vol 36 (1) ◽  
pp. 214-215
Author(s):  
R. Hegerl ◽  
A. Feltynowski ◽  
B. Grill
Keyword(s):  
Electron Microscopy ◽  
Independent Random Variables ◽  
Optical Parameters ◽  
Bright Field Image ◽  
Bright Field ◽  
Expectation Value ◽  
All Optical ◽  
Image Element ◽  
Stochastic Series ◽  
The Common

Till now correlation functions have been used in electron microscopy for two purposes: a) to find the common origin of two micrographs representing the same object, b) to check the optical parameters e. g. the focus. There is a third possibility of application, if all optical parameters are constant during a series of exposures. In this case all differences between the micrographs can only be caused by different noise distributions and by modifications of the object induced by radiation.Because of the electron noise, a discrete bright field image can be considered as a stochastic series Pm,where i denotes the number of the image and m (m = 1,.., M) the image element. Assuming a stable object, the expectation value of Pm would be Ηm for all images. The electron noise can be introduced by addition of stationary, mutual independent random variables nm with zero expectation and the variance. It is possible to treat the modifications of the object as a noise, too.

The Red Neuronal Pigment in the Nervous System of the Mussel, Mytilus Edulis: Localization and Its Effect on Lateral Ciliary Activity with Spectral and Analytical Changes

1981 ◽  
Vol 39 ◽  
pp. 494-495
Author(s):  
Anthony A. Paparo ◽  
Judith A. Murphy
Keyword(s):  
Nervous System ◽  
Mytilus Edulis ◽  
Neuronal Cell ◽  
Ciliary Activity ◽  
Neuronal Cell Bodies ◽  
The Central Nervous System ◽  
Intracellular Organelles ◽  
The Common ◽  
The Individual ◽  
Cryostat Sections

The purpose of this study was to localize the red neuronal pigment in Mytilus edulis and examine its role in the control of lateral ciliary activity in the gill. The visceral ganglia (Vg) in the central nervous system show an over al red pigmentation. Most red pigments examined in squash preps and cryostat sec tions were localized in the neuronal cell bodies and proximal axon regions. Unstained cryostat sections showed highly localized patches of this pigment scattered throughout the cells in the form of dense granular masses about 5-7 um in diameter, with the individual granules ranging from 0.6-1.3 um in diame ter. Tissue stained with Gomori's method for Fe showed bright blue granular masses of about the same size and structure as previously seen in unstained cryostat sections.Thick section microanalysis (Fig.l) confirmed both the localization and presence of Fe in the nerve cell. These nerve cells of the Vg share with other pigmented photosensitive cells the common cytostructural feature of localization of absorbing molecules in intracellular organelles where they are tightly ordered in fine substructures.

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