ArticleBMC genomics2004
Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults.
Article in BMC genomics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 51 citations in OpenAlex.
- Induction of fetal hemoglobin: Lentiviral shRNA knockdown of HBS1L in β0-thalassemia/HbE erythroid cells.PloS one · 2023Article
- Platelet abnormalities in Huntington's disease.Journal of neurology, neurosurgery, and psychiatry · 2019Article
- Serum of sickle cell disease patients contains fetal hemoglobin silencing factors secreted from leukocytes.Journal of blood medicine · 2018Article
- The proinflammatory cytokine GM-CSF downregulates fetal hemoglobin expression by attenuating the cAMP-dependent pathway in sickle cell disease.Blood cells, molecules & diseases · 2011Article
- Fetal hemoglobin in sickle cell anemia.Blood · 2011Review
- Update on fetal hemoglobin gene regulation in hemoglobinopathies.Current opinion in pediatrics · 2011Review
- MYB upregulation and genetic aberrations in a subset of pediatric low-grade gliomas.Acta neuropathologica · 2010Article
- Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.Nature genetics · 2010Article
- Control of fetal hemoglobin: new insights emerging from genomics and clinical implications.Human molecular genetics · 2009Review
- Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.Genomics insights · 2009Article
- Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E.International journal of hematology · 2008Article
- Alternative RNA splicing produces multiple forms of c-Myb with unique transcriptional activities.Molecular and cellular biology · 2008Article
- Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.Journal of medical genetics · 2006Article
- Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.Human genetics · 2006Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHeterocellular hereditary persistence of fetal hemoglobin (HPFH) is a common multifactorial trait characterized by a modest increase of fetal hemoglobin levels in adults. We previously localized a Quantitative Trait Locus for HPFH in an extensive Asian-Indian kindred to chromosome 6q23. As part of the strategy of positional cloning and a means towards identification of the specific genetic alteration in this family, a thorough annotation of the candidate interval based on a strategy of in silico / wet biology approach with comparative genomics was conducted.
resultsThe ~1.5 Mb candidate region was shown to contain five protein-coding genes. We discovered a very large uncharacterized gene containing WD40 and SH3 domains (AHI1), and extended the annotation of four previously characterized genes (MYB, ALDH8A1, HBS1L and PDE7B). We also identified several genes that do not appear to be protein coding, and generated 17 kb of novel transcript sequence data from re-sequencing 97 EST clones.
conclusionDetailed and thorough annotation of this 1.5 Mb interval in 6q confirms a high level of aberrant transcripts in testicular tissue. The candidate interval was shown to exhibit an extraordinary level of alternate splicing - 19 transcripts were identified for the 5 protein coding genes, but it appears that a significant portion (14/19) of these alternate transcripts did not have an open reading frame, hence their functional role is questionable. These transcripts may result from aberrant rather than regulated splicing.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.