Localization of a gamma-glutamyl-transferase-related gene family on chromosome 22

Morris, Christine M.; Courtay, C; A, Geurts van Kessel; J, ten Hoeve; Heisterkamp, Nora; Groffen, John

doi:10.1007/bf00230218

Cited by 39 publications

(24 citation statements)

References 18 publications

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“…The 22q11 region contains a large number of highly repetitive as well as intermediate repetitive sequences (10,13,14). There also is evidence that several genes may be duplicated in the region (15,57). The regions in which we have mapped the evolutionary breakpoints of human chromosome 22q11 correspond to regions containing these repetitive sequences.…”

Section: Discussionmentioning

confidence: 92%

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Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

Puech

Saint-Jore

Funke

et al. 1997

Proc. Natl. Acad. Sci. U.S.A.

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The region of human chromosome 22q11 is prone to rearrangements. The resulting chromosomal abnormalities are involved in Velo-cardio-facial and DiGeorge syndromes (VCFS and DGS) (deletions), ''cat eye'' syndrome (duplications), and certain types of tumors (translocations). As a prelude to the development of mouse models for VCFS͞DGS by generating targeted deletions in the mouse genome, we examined the organization of genes from human chromosome 22q11 in the mouse. Using genetic linkage analysis and detailed physical mapping, we show that genes from a relatively small region of human 22q11 are distributed on three mouse chromosomes (MMU6, MMU10, and MMU16). Furthermore, although the region corresponding to about 2.5 megabases of the VCFS͞DGS critical region is located on mouse chromosome 16, the relative organization of the region is quite different from that in humans. Our results show that the instability of the 22q11 region is not restricted to humans but may have been present throughout evolution. The results also underscore the importance of detailed comparative mapping of genes in mice and humans as a prerequisite for the development of mouse models of human diseases involving chromosomal rearrangements.

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Section: Discussionmentioning

confidence: 92%

“…Human chromosome 22q11 has a high gene density, but it also contains several duplicated regions and low-copy repeat families. It has been suggested that the instability of the 22q11 region may be related to the presence of these numerous repeats (14,15).…”

mentioning

confidence: 99%

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

Puech

Saint-Jore

Funke

et al. 1997

Proc. Natl. Acad. Sci. U.S.A.

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“…Some of the genes have been well characterized . The four known genes in the LCR22s are USP18 (Schwer et al 2000), GGT (Rajpert-De Meyts et al 1988), GGTLA (Heisterkamp et al 1991;Morris et al 1993), and BCR (Heisterkamp et al 1985). USP18 maps to LCR22-2, GGT maps to LCR22-8, GGTLA maps to LCR22-7, and BCR maps to LCR22-6 (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…The functional GGT gene (Rajpert-De Meyts et al 1988) maps to LCR22-8, but unprocessed pseudogene copies (Morris et al 1993) map to other LCR22s and other loci in the genome (Fig. 1A,D).…”

Section: Duplication and Transposition Processes Of Ggtmentioning

confidence: 99%

Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22) by Alu-Mediated Recombination Events During Evolution

Babcock¹

2003

Genome Research

119

126

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Low-copy repeats, or segmental duplications, are highly dynamic regions in the genome. The low-copy repeats on chromosome 22q11.2 (LCR22) are a complex mosaic of genes and pseudogenes formed by duplication processes; they mediate chromosome rearrangements associated with velo-cardio-facial syndrome/DiGeorge syndrome, der (22) syndrome, and cat-eye syndrome. The ability to trace the substrates and products of recombination events provides a unique opportunity to identify the mechanisms responsible for shaping LCR22s. We examined the genomic sequence of known LCR22 genes and their duplicated derivatives. We found Alu (SINE) elements at the breakpoints in the substrates and at the junctions in the truncated products of recombination for USP18, GGT, and GGTLA, consistent with Alu-mediated unequal crossing-over events. In addition, we were able to trace a likely interchromosomal Alu-mediated fusion between IGSF3 on 1p13.1 and GGT on 22q11.2. Breakpoints occurred inside Alu elements as well as in the 5Ј or 3Ј ends of them. A possible stimulus for the 5Ј or 3Ј terminal rearrangements may be the high sequence similarities between different Alu elements, combined with a potential recombinogenic role of retrotransposon target-site duplications flanking the Alu element, containing potentially kinkable DNA sites. Such sites may represent focal points for recombination. Thus, genome shuffling by Alu-mediated rearrangements has contributed to genome architecture during primate evolution.

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“…However, Pawlak et al (1988) showed that at least four genes containing GGT sequences were present in the human genome. These are located at band q11 on chromosome 22 (Morris et al, 1993;Collins et al, 1997). Recently, It has been reported that the human GGT was encoded by a multigene family including at least seven genes.…”

Section: Yardimci 2000)mentioning

confidence: 99%

Activity Determination, Kinetic Analyses and Isoenzyme Identification of Gamma Glutamyltransferase in Human Neutrophils

Şener¹,

Yardımcı²

2005

BMB Reports

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Gamma-glutamyltransferase (GGT, EC 2.3.2.2) which hydrolyzes glutathione (GSH), is required for the maintenance of normal intracellular GSH concentration. GGT is a membrane enzyme present in leukocytes and platelets. Its activity has also been observed in human neutrophils. In this study, GGT was purified from Triton X-100 solubilized neutrophils and its kinetic parameters were determined. For kinetic analyses of transpeptidation reaction, γ-glutamyl p-nitroanilide was used as the substrate and glycylglycine as the acceptor. Apparent K m values were determined as 1.8 mM for γ-glutamyl pnitroanilide and 16.9 mM for glycylglycine. The optimum pH of GGT activity was 8.2 and the optimum temperature was 37ºC. It had thermal stability with 58% relative activity at 56ºC for 30 min incubation. L-serine, in the presence of borate, was detected as the competetive inhibitor. Bromcresol green inhibited neutrophil GGT activity as a noncompetetive inhibitor. The neutrophils seem to contain only the isoenzyme that is present in platelets. We characterized the kinetic properties and compared the type of the isoenzyme of neutrophil GGT with platelet GGT via polyacrylamide gel electrophoresis (PAGE) under a standart set of conditions.

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Localization of a gamma-glutamyl-transferase-related gene family on chromosome 22

Cited by 39 publications

References 18 publications

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22) by Alu-Mediated Recombination Events During Evolution

Activity Determination, Kinetic Analyses and Isoenzyme Identification of Gamma Glutamyltransferase in Human Neutrophils

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