title: The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation.
abstract: It was reported that positive selection has acted upon a gene involved in autosomal recessive primary microcephaly, Microcephalin (MCPH1/BRIT1), located at chromosome 8p23. We tested if the reported diagnostic single nucleotide polymorphism (SNP) (G37995C or c.940G > C) of a derived haplogroup of the MCPH1 gene had significantly different frequencies in mental retardation (MR) patients and in MR patients with microcephaly as compared to MR patients without microcephaly and controls in African-American and Caucasian populations in South Carolina, US. Our results suggest that there is little or no association between the MCPH1 c.940G allele and either microcephaly or MR. However, we found highly significant racial differences in the c.940G > C SNP allele frequencies between African-American and Caucasian populations.
authors.affiliation: JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
authors.forename: Reycel
authors.initials: R
authors.lastname: Maghirang-Rodriguez
authors.forename: John G
authors.initials: JG
authors.lastname: Archie
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Julianne S
authors.initials: JS
authors.lastname: Collins
mesh_terms: D001741:Black or African American / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D016022:Case-Control Studies; D018797:Cell Cycle Proteins; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003598:Cytoskeletal Proteins; D004247:DNA / Q000097:blood / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D017931:DNA Primers; C460645:MCPH1 protein, human; D009419:Nerve Tissue Proteins; D004247:DNA