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

Journal article

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.

Authors: Wilkie, A

• Journal: Journal of biology
• Volume: 8
• Issue: 3
• Pages: 26
• Publication date: 2009-01-01
• DOI: 10.1186/jbiol127
• EISSN: 1475-4924
• ISSN: 1478-5854
• Language: English
• Keywords: Amino Acid Sequence; Mouth Abnormalities; Base Sequence; Homeodomain Proteins; MSX1 Transcription Factor; Genomics; Humans; Genetic Predisposition to Disease; Mutation; Conserved Sequence