Evidence map›Paper›PMID 31899510›Full record

ArticleGigaScience2020

A genome alignment of 120 mammals highlights ultraconserved element variability and placenta-associated enhancers.

Nikolai Hecker, Michael Hiller

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Article in GigaScience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.

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41citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

41 citing papers in PubMed.

  1. Article
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  17. Partitioned Multi-MUM finding for scalable pangenomics.bioRxiv : the preprint server for biology · 2025
    Article
  18. Congenital Aphakia Associated With aClinical case reports · 2025
    Article
  19. Article
  20. Article
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

2 authors.

Nikolai HeckerMax Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstr. 108, 01307 Dresden, Germany.
Michael HillerMax Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstr. 108, 01307 Dresden, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMultiple alignments of mammalian genomes have been the basis of many comparative genomic studies aiming at annotating genes, detecting regions under evolutionary constraint, and studying genome evolution. A key factor that affects the power of comparative analyses is the number of species included in a genome alignment.

resultsTo utilize the increased number of sequenced genomes and to provide an accessible resource for genomic studies, we generated a mammalian genome alignment comprising 120 species. We used this alignment and the CESAR method to provide protein-coding gene annotations for 119 non-human mammals. Furthermore, we illustrate the utility of this alignment by 2 exemplary analyses. First, we quantified how variable ultraconserved elements (UCEs) are among placental mammals. Leveraging the high taxonomic coverage in our alignment, we estimate that UCEs contain on average 4.7%-15.6% variable alignment columns. Furthermore, we show that the center regions of UCEs are generally most constrained. Second, we identified enhancer sequences that are only conserved in placental mammals. We found that these enhancers are significantly associated with placenta-related genes, suggesting that some of these enhancers may be involved in the evolution of placental mammal-specific aspects of the placenta.

conclusionThe 120-mammal alignment and all other data are available for analysis and visualization in a genome browser at https://genome-public.pks.mpg.de/and for download at https://bds.mpi-cbg.de/hillerlab/120MammalAlignment/.

Indexed as

Conserved SequenceEnhancer Elements, GeneticEvolution, MolecularGenetic VariationGenomeGenomicsAnimalsComputational BiologyFemaleGene Expression RegulationGenome, HumanHumansMammalsMolecular Sequence AnnotationOrgan SpecificityPhylogenycomparative gene annotationenhancersgenome alignmentmammalsultraconserved elements

Identifiers

PMID31899510
PMCPMC6941714

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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.