Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm

2005 ◽  
Vol 138A (4) ◽  
pp. 355-360 ◽  
Author(s):  
Luke J. Boyd ◽  
Joseph S. Livingston ◽  
Michael G. Brown ◽  
Helen J. Lawce ◽  
Joseph T. Gilhooly ◽  
...  
Keyword(s):  
Chromosome 22 ◽  
Recombinant Chromosome ◽  
Exchange Event

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

scholarly journals Chromosome 22 Deletions and Suicidal Behavior in Schizophrenia

2021 ◽  
pp. 1-8
Author(s):  
Ali Bani-Fatemi ◽  
Christopher Adanty ◽  
Nasia Dai ◽  
Ariel Graff ◽  
Philip Gerretsen ◽  
...  
Keyword(s):  
Suicide Attempt ◽  
Suicidal Behavior ◽  
Copy Number ◽  
Rating Scale ◽  
Copy Number Variant ◽  
Chromosome 22 ◽  
Suicide Attempters ◽  
Severity Rating ◽  
Neuropsychiatric Diseases ◽  
Significant Difference

Background: Studies have shown that the overall copy number variant (CNV) load is associated with schizophrenia. Schizophrenia is a mental disorder that is frequently associated with suicidal behavior. Methods: We recruited 263 patients with schizophrenia from the Centre for Addiction and Mental Health. The Columbia Suicide Severity Rating Scale was used to assess the presence of lifetime suicide attempt. Genotyping was completed using the Illumina Omni 2.5 chip. We tested the association between deletion events on chromosome 22 with suicide attempt in our schizophrenia sample. Results: There was no significant difference between suicide attempters and non-attempters considering the presence/absence of deletion events on chromosome 22. Conclusion: Although our results did not show a significant association between deletions on chromosome 22 and suicide attempt in schizophrenia, CNV studies may reveal important, novel insights and open further investigation for the treatment of neuropsychiatric diseases.

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