ArticleProceedings of the National Academy of Sciences of the United States of America2005
Annotation of cis-regulatory elements by identification, subclassification, and functional assessment of multispecies conserved sequences.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
76 citing papers in PubMed, 149 citations in OpenAlex.
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- Super-enhancers include classical enhancers and facilitators to fully activate gene expression.Cell · 2023Article
- Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.Life science alliance · 2023Article
- Understanding fundamental principles of enhancer biology at a model locus: Analysing the structure and function of an enhancer cluster at the α-globin locus.BioEssays : news and reviews in molecular, cellular and developmental biology · 2023Review
- Ancient genomic linkage couples metabolism with erythroid development.bioRxiv : the preprint server for biology · 2023Article
- Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.PLoS genetics · 2023Article
- Molecular Basis and Genetic Modifiers of Thalassemia.Hematology/oncology clinics of North America · 2023Review
- Genetic cold cases: lessons from solving complex congenital limb disorders.Genes & development · 2023Review
- Identification of two rareFrontiers in genetics · 2022Article
- Pervasive translation of small open reading frames in plant long non-coding RNAs.Frontiers in plant science · 2022Review
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
An important step toward improving the annotation of the human genome is to identify cis-acting regulatory elements from primary DNA sequence. One approach is to compare sequences from multiple, divergent species. This approach distinguishes multispecies conserved sequences (MCS) in noncoding regions from more rapidly evolving neutral DNA. Here, we have analyzed a region of approximately 238kb containing the human alpha globin cluster that was sequenced and/or annotated across the syntenic region in 22 species spanning 500 million years of evolution. Using a variety of bioinformatic approaches and correlating the results with many aspects of chromosome structure and function in this region, we were able to identify and evaluate the importance of 24 individual MCSs. This approach sensitively and accurately identified previously characterized regulatory elements but also discovered unidentified promoters, exons, splicing, and transcriptional regulatory elements. Together, these studies demonstrate an integrated approach by which to identify, subclassify, and predict the potential importance of MCSs.
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Registered trials
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.