Pitfalls in the phylogenomic evaluation of human disease-causing mutations.

Andrew O M Wilkie

Journal: Journal of biology 2009;8(3):26

PMID: 19344491

Free Full Text on BioMed Central View on PubMed

Abstract

A detailed sequence comparison of the MSX homeobox family sheds light on its evolution and identifies new conserved motifs. But in the absence of corroborative genetic data, phylogenomics alone can provide only limited insights into the pathogenicity of heterozygous missense substitutions in human genes.

Address: Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK. [email protected]

DOI: 10.1186/jbiol127

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https://jbiol.biomedcentral.com/articles/10.1186/j...
https://pmc.ncbi.nlm.nih.gov/articles/pmid/1934449...
https://europepmc.org/abstract/MED/19344491

Research Materials:

https://antibodies.cancer.gov/detail/CPTC-LBX1-2

MeSH Terms: Amino Acid Sequence, Base Sequence, Conserved Sequence, Genetic Predisposition to Disease, Genomics, Homeodomain Proteins, Humans, MSX1 Transcription Factor, Mouth Abnormalities, Mutation