A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice |
| Type de publication | Journal Article |
| Year of Publication | 2021 |
| Auteurs | Szpak M, Collins SC, Li Y, Liu X, Ayub Q, Fischer M-C, Vancollie VE, Lelliott CJ, Xue Y, Yalcin B, Yang H, Tyler-Smith C |
| Journal | MOLECULAR BIOLOGY AND EVOLUTION |
| Volume | 38 |
| Pagination | 5655-5663 |
| Date Published | DEC |
| Type of Article | Article |
| ISSN | 0737-4038 |
| Mots-clés | brain size, loss of function, mouse knockout, mri, positive selection, sexual dimorphism |
| Résumé | {A nonsense allele at rs1343879 in human MAGEE2 on chromosome X has previously been reported as a strong candidate for positive selection in East Asia. This premature stop codon causing similar to 80% protein truncation is characterized by a striking geographical pattern of high population differentiation: common in Asia and the Americas (up to 84% in the 1000 Genomes Project East Asians) but rare elsewhere. Here, we generated a Magee2 mouse knockout mimicking the human loss-of-function mutation to study its functional consequences. The Magee2 null mice did not exhibit gross abnormalities apart from enlarged brain structures (13% increased total brain area |
| DOI | 10.1093/molbev/msab243 |