scholarly journals The Organization of the γ-Glutamyl Transferase Genes and Other Low Copy Repeats in Human Chromosome 22q11

1997 ◽  
Vol 7 (5) ◽  
pp. 522-531 ◽  
Author(s):  
John E. Collins ◽  
Andrew J. Mungall ◽  
Karen L. Badcock ◽  
Joanne M. Fay ◽  
Ian Dunham
Keyword(s):  
Human Chromosome ◽  
Chromosome 22Q11 ◽  
Low Copy Repeats ◽  
Human Chromosome 22Q11 ◽  
Glutamyl Transferase

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.

Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome

1992 ◽  
Vol 89 (1) ◽  
pp. 73-78 ◽  
Author(s):  
A.M. Sharkey ◽  
L. McLaren ◽  
M. Carroll ◽  
J. Fantes ◽  
D. Green ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Dna Markers ◽  
Digeorge Syndrome ◽  
Chromosome 22Q11 ◽  
Human Chromosome 22Q11

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

Genomics ◽  
1990 ◽  
Vol 7 (3) ◽  
pp. 299-306 ◽  
Author(s):  
A.H. Carey ◽  
S. Roach ◽  
R. Willamson ◽  
J.P. Dumanski ◽  
M. Nordenskiold ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Dna Markers ◽  
Digeorge Syndrome ◽  
Chromosome 22Q11 ◽  
Human Chromosome 22Q11

BID, a Proapoptotic BCL-2 Family Member, Is Localized to Mouse Chromosome 6 and Human Chromosome 22q11

Genomics ◽  
1998 ◽  
Vol 53 (2) ◽  
pp. 235-238 ◽  
Author(s):  
Kun Wang ◽  
Xiao-Ming Yin ◽  
Neal G. Copeland ◽  
Debra J. Gilbert ◽  
Nancy A. Jenkins ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Family Member ◽  
Mouse Chromosome ◽  
Chromosome 6 ◽  
Chromosome 22Q11 ◽  
Human Chromosome 22Q11

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

Genomics ◽  
2003 ◽  
Vol 82 (2) ◽  
pp. 238-244 ◽  
Author(s):  
Hirobumi Sugawara ◽  
Naoki Harada ◽  
Tomoko Ida ◽  
Takafumi Ishida ◽  
David H. Ledbetter ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Low Copy Repeats

On an Application of the Metallurgical Stage to Chromosome Morphology

1967 ◽  
Vol 25 ◽  
pp. 28-29
Author(s):  
Godfrey C. Hoskins
Keyword(s):  
Human Chromosome ◽  
Electron Micrographs ◽  
Chromosome Morphology ◽  
Electron Optics ◽  
Electron Micrograph ◽  
Photographic Evidence ◽  
Sophisticated Equipment ◽  
Periodic Arrangement

The first serious electron microscooic studies of chromosomes accompanied by pictures were by I. Elvers in 1941 and 1943. His prodigious study, from the manufacture of micronets to the development of procedures for interpreting electron micrographs has gone all but unnoticed. The application of todays sophisticated equipment confirms many of the findings he gleaned from interpretation of images distorted by the electron optics of that time. In his figure 18 he notes periodic arrangement of pepsin sensitive “prickles” now called secondary fibers. In his figure 66 precise regularity of arrangement of these fibers can be seen. In his figure 22 he reproduces Siegbahn's first stereoscopic electron micrograph of chromosomes.The two stereoscopic pairs of electron micrographs of a human chromosome presented here were taken with a metallurgical stage on a Phillips EM200. These views are interpreted as providing photographic evidence that primary fibers (1°F) about 1,200Å thick are surrounded by secondary fibers (2°F) arranged in regular intervals of about 2,800Å in this metanhase human chromosome. At the telomere the primary fibers bend back on themselves and entwine through the center of each of each chromatid. The secondary fibers are seen to continue to surround primary fibers at telomeres. Thus at telomeres, secondary fibers present a surface not unlike that of the side of the chromosome, and no more susceptible to the addition of broken elements from other chromosomes.

Referenzwerte blutchemischer Parameter bei Meerschweinchen bestimmt mit dem Vettest® 8008

2011 ◽  
Vol 39 (03) ◽  
pp. 170-175 ◽  
Author(s):  
H. Rabe
Keyword(s):  
Alkalische Phosphatase ◽  
Glutamyl Transferase

Zusammenfassung Gegenstand: Die Studie präsentiert Referenzbereiche für ein praxisübliches Trockenchemiegerät (Vettest® 8008), die bei als Heimtiere gehaltenen Meerschweinchen ermittelt wurden. Material und Methoden: Bei den Probanden handelte es sich um 58 klinisch gesunde Meerschweinchen im Alter zwischen 8 Wochen und 5 Jahren (24 männlich, 34 weiblich). Die Plasmaproben wurden routinemäßig für die Untersuchung im Vettest® 8008 aufgearbeitet und auf 20 Parameter (s. u.) untersucht. Zur Ermittlung der Referenzwerte wurden mittels SPSS Statistics 17.0 (IBM®) die 2,5%- und 97,5%-Perzentile bestimmt. Ergebnisse: Folgende Referenzwerte wurden ermittelt: 1) Enzyme: alkalische Phosphatase: 50,80–328,10 U/l; Alaninaminotransferase: 41,45 bis 165,35 U/l; Amylase: 726,93–1831,55 U/l; Aspartataminotransferase: 25,25–349,23 U/l; Kreatinkinase: 66,13–1255,40 U/l, γ-Glutamyl- Transferase: 0,45–90,75 U/l; Laktatdehydrogenase: 5,61–1503,00 U/l, Lipase: keine messbare Aktivität. 2) Substrate: Albumin: 17,45 bis 31,65 g/l; Ammoniak: 4,80–225,30 mmol/l; Cholesterin: 0,0 bis 2,06 mmol/l; Kreatinin: 23,90–73,45 μmol/l; Gesamtbilirubin: 2,00 bis 17,60 μmol/l; Gesamteiweiß: 50,00–70,85 g/l; Glukose: 4,62 bis 19,55 mmol/l; Harnstoff-Stickstoff: 2,04–11,28 mmol/l; Triglyzeride: 0,46–4,23 mmol/l. Die Globuline wurden vom Gerät rechnerisch ermittelt: 30,43–42,00 g/l. 3) Elektrolyte: anorganisches Phosphat: 0,72 bis 2,12 mmol/l, Kalzium: 2,58–3,16 mmol/l; Magnesium: 0,72 bis 1,60 mmol/l. Schlussfolgerungen: Der Vergleich mit Angaben aus der Literatur zeigt Abweichungen der Studien untereinander und von der vorliegenden Arbeit. Daraus ist die Schlussfolgerung zu ziehen, dass Referenzwerte unterschiedlicher Untersuchungsverfahren nicht unkritisch für das tierärztliche Sofortlabor übernommen werden können und zur Interpretation von Blutbefunden eigene Referenzwerte für die einzelnen Gerätetypen notwendig sind. Mögliche Ursachen für die Abweichungen könnten in unentdeckten subklinischen Erkrankungen sowie chemischer oder statistischer Methodik liegen.

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