Deletions on chromosome 22 in sporadic meningioma

1994 ◽  
Vol 10 (2) ◽  
pp. 122-130 ◽  
Author(s):  
Martin H. Ruttledge ◽  
Ya-Gang Xie ◽  
Fei-Yu Han ◽  
Myriam Peyrard ◽  
V. Peter Collins ◽  
...  
Keyword(s):  
Chromosome 22 ◽  
Sporadic Meningioma

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma

1996 ◽  
Vol 84 (5) ◽  
pp. 847-851 ◽  
Author(s):  
Takehiko Harada ◽  
Richard M. Irving ◽  
John H. Xuereb ◽  
David E. Barton ◽  
David G. Hardy ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Sporadic Meningioma

✓ The authors investigated the role of somatic mutations of the neurofibromatosis type 2 (NF2) gene in sporadic meningioma. Neurofibromatosis 2 is a dominantly inherited familial tumor syndrome predisposing affected patients to a variety of central nervous system tumors including vestibular schwannoma and meningioma. Neurofibromatosis type 2 is caused by germline mutations in the NF2 tumor suppressor gene. In addition, the authors and others have reported that somatic NF2 gene mutations occur frequently in nonfamilial vestibular schwannoma. In this study, molecular genetic analysis was performed on 23 nonfamilial meningiomas. Paired DNA samples extracted from the blood and tumors of the patients were analyzed for loss of heterozygosity (LOH) in the region of the NF2 gene on chromosome 22 using closely linked DNA markers. The NF2 gene mutations were sought by single-stranded conformation polymorphism analysis and DNA sequencing. Fourteen (61%) of 23 meningiomas showed LOH in the region of the NF2 gene on chromosome 22. Somatic NF2 gene mutations were detected in eight meningiomas (35%) after screening all 17 exons. All tumors with NF2 gene mutations showed simultaneous chromosome 22 LOH. Review of the histopathological findings of the cases studied did not demonstrate any predominance of genetic abnormalities in a particular histological type of meningioma. These results are compatible with the hypothesis that the NF2 gene acts as a tumor suppressor and that its inactivation is important in the pathogenesis of sporadic meningioma.

scholarly journals DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
L. C. Schenkel ◽  
E. Aref-Eshghi ◽  
K. Rooney ◽  
J. Kerkhof ◽  
M. A. Levy ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Critical Region ◽  
Deletion Syndrome ◽  
Genetic Defects ◽  
Chromosome 22 ◽  
Incomplete Penetrance ◽  
Variable Size ◽  
Variable Expressivity ◽  
Genome Wide ◽  
22Q13.3 Deletion Syndrome

Abstract Background Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in affected individuals. Results In this study we assessed genome-wide DNA methylation profiles in a cohort of 22 individuals with Phelan-McDermid syndrome, including 11 individuals with large (2 to 5.8 Mb) 22q13.3 deletions, 10 with small deletions (< 1 Mb) or intragenic variants in SHANK3 and one mosaic case. We describe a novel genome-wide DNA methylation epi-signature in a subset of individuals with Phelan-McDermid syndrome. Conclusion We identified the critical region including the BRD1 gene as responsible for the Phelan-McDermid syndrome epi-signature. Metabolomic profiles of individuals with the DNA methylation epi-signature showed significantly different metabolomic profiles indicating evidence of two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

scholarly journals The genomic structure of a human chromosome 22 nucleolar organizer region determined by TAR cloning

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jung-Hyun Kim ◽  
Vladimir N. Noskov ◽  
Aleksey Y. Ogurtsov ◽  
Ramaiah Nagaraja ◽  
Nikolai Petrov ◽  
...  
Keyword(s):  
Genomic Structure ◽  
Organizer Region ◽  
Nucleolar Organizer Region ◽  
Nucleolar Organizer ◽  
Chromosome 21 ◽  
Reference Sequence ◽  
Chromosome 22 ◽  
Rdna Variation ◽  
High Level ◽  
Tar Cloning

AbstractThe rDNA clusters and flanking sequences on human chromosomes 13, 14, 15, 21 and 22 represent large gaps in the current genomic assembly. The organization and the degree of divergence of the human rDNA units within an individual nucleolar organizer region (NOR) are only partially known. To address this lacuna, we previously applied transformation-associated recombination (TAR) cloning to isolate individual rDNA units from chromosome 21. That approach revealed an unexpectedly high level of heterogeneity in human rDNA, raising the possibility of corresponding variations in ribosome dynamics. We have now applied the same strategy to analyze an entire rDNA array end-to-end from a copy of chromosome 22. Sequencing of TAR isolates provided the entire NOR sequence, including proximal and distal junctions that may be involved in nucleolar function. Comparison of the newly sequenced rDNAs to reference sequence for chromosomes 22 and 21 revealed variants that are shared in human rDNA in individuals from different ethnic groups, many of them at high frequency. Analysis infers comparable intra- and inter-individual divergence of rDNA units on the same and different chromosomes, supporting the concerted evolution of rDNA units. The results provide a route to investigate further the role of rDNA variation in nucleolar formation and in the empirical associations of nucleoli with pathology.

scholarly journals A PvuII polymorphism of the bcr region in patients with hematopoietic disorders and their families

Blood ◽  
1989 ◽  
Vol 73 (3) ◽  
pp. 814-817 ◽  
Author(s):  
B Opalka ◽  
U Wandl ◽  
O Kloke ◽  
C Oberle ◽  
J Koppe ◽  
...  
Keyword(s):  
Restriction Enzymes ◽  
Chromosome 22 ◽  
Specific Probe ◽  
Allele Polymorphism ◽  
Additional Band ◽  
Hematopoietic Malignancies ◽  
Leukemia Patient ◽  
Hematopoietic Disorders ◽  
Pvuii Polymorphism

Abstract The BCR gene on chromosome 22 has received increasing attention because of its involvement in the Philadelphia (Ph′) translocation. For most restriction enzymes, this locus has been found to be nonpolymorphic. Two alleles have only been found when Taql-digested DNA is hybridized to a 5′ bcr-specific probe. We describe another two-allele polymorphism detected by the same probe in PvuII-digested DNA. The polymorphism is characterized by an additional PvuII site in the bcr region: this causes the appearance of an additional band of about 2.3 kb or 2.5 kb besides a 4.8-kb fragment in hybridizations with the 5′ bcr or a 3′ bcr probe. The incidence of the second allele is very low. It has only been found in some patients with hematopoietic malignancies and in a group of volunteers having a leukemia patient in their families.

Session V. Chromosome 22 and Schizophrenia/DRD3

1995 ◽  
Vol 5 (Supplement) ◽  
pp. 12-15
Author(s):  
&NA;
Keyword(s):  
Chromosome 22

Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization

1992 ◽  
Vol 64 (1) ◽  
pp. 65-68 ◽  
Author(s):  
Vijay Tonk ◽  
Peter Osella ◽  
Antonio Delasmorenas ◽  
Herman E. Wyandt ◽  
Aubrey Milunsky
Keyword(s):  
In Situ Hybridization ◽  
Chromosome 22

Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

2003 ◽  
Vol 23 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Tung-Yao Chang ◽  
Chen-Chi Lee ◽  
Li-Feng Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intrauterine Growth Restriction ◽  
Ring Chromosome ◽  
Growth Restriction ◽  
Chromosome 22 ◽  
Intrauterine Growth ◽  
Cardiovascular Abnormalities
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