ArticleGenome research2001
Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.
Article in Genome research, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 109 citations in OpenAlex.
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- Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study.International journal of molecular sciences · 2022Article
- A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.BMC pediatrics · 2022Article
- Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.Frontiers in immunology · 2022Article
- Lentiviral MediatedFrontiers in immunology · 2022Article
- Positively selected genes in the hoary bat (PeerJ · 2022Article
- BCL2L13: physiological and pathological meanings.Cellular and molecular life sciences : CMLS · 2021Review
- Cecr2 mutant mice as a model for human cat eye syndrome.Scientific reports · 2021Article
- A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome.Case reports in genetics · 2021Article
- Cytotoxic activity of bromodomain inhibitor NVS-CECR2-1 on human cancer cells.Scientific reports · 2020Article
- lncRNAs-mRNAs Co-Expression Network Underlying Childhood B-Cell Acute Lymphoblastic Leukaemia: A Pilot Study.Cancers · 2020Article
- Adenosine deaminase 2 activity negatively correlates with age during childhood.Pediatric rheumatology online journal · 2020Article
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- Narrowing the wingless-2 mutation to a 227 kb candidate region on chicken chromosome 12.Poultry science · 2018Article
- Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.Molecular and cellular neurosciences · 2018Review
- Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.Frontiers in pediatrics · 2018Review
Corrections and comments
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Authors and funding
27 authors at 1 institution in 3 countries.
Funding
Abstract
We have sequenced a 1.1-Mb region of human chromosome 22q containing the dosage-sensitive gene(s) responsible for cat eye syndrome (CES) as well as the 450-kb homologous region on mouse chromosome 6. Fourteen putative genes were identified within or adjacent to the human CES critical region (CESCR), including three known genes (IL-17R, ATP6E, and BID) and nine novel genes, based on EST identity. Two putative genes (CECR3 and CECR9) were identified, in the absence of EST hits, by comparing segments of human and mouse genomic sequence around two solitary amplified exons, thus showing the utility of comparative genomic sequence analysis in identifying transcripts. Of the 14 genes, 10 were confirmed to be present in the mouse genomic sequence in the same order and orientation as in human. Absent from the mouse region of conserved synteny are CECR1, a promising CES candidate gene from the center of the contig, neighboring CECR4, and CECR7 and CECR8, which are located in the gene-poor proximal 400 kb of the contig. This latter proximal region, located approximately 1 Mb from the centromere, shows abundant duplicated gene fragments typical of pericentromeric DNA. The margin of this region also delineates the boundary of conserved synteny between the CESCR and mouse chromosome 6. Because the proximal CESCR appears abundant in duplicated segments and, therefore, is likely to be gene poor, we consider the putative genes identified in the distal CESCR to represent the majority of candidate genes for involvement in CES.
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