Review
Neurosciences
Xingxuan Wu, Zheng Li, Zhao-Qi Wang, Xingzhi Xu
Summary: Primary microcephaly (MCPH) is a neurological disorder characterized by small brain size and developmental problems. The MCPH5 gene, which encodes abnormal spindle-like microcephaly-associated protein (ASPM), is frequently mutated. ASPM plays a role in mitotic events, cell proliferation, and tumorigenesis. High levels of ASPM expression correlate with poor prognosis in several types of tumors. This study summarizes the functions of ASPM and its implications for MCPH and cancer.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Alex R. DeCasien, Amber E. Trujillo, Mareike C. Janiak, Etta P. Harshaw, Zosia N. Caes, Gabriela A. Galindo, Rachel M. Petersen, James P. Higham
Summary: The study investigated candidate genes associated with megalencephaly, finding evidence for positive selection on only one gene, OFD1, but no relationship between selection pressure on this gene and brain size across species. Evolutionary changes to these genes may be driven by traits other than brain size. Positive associations were identified for two genes when phyletic dwarfs were excluded, but these associations did not withstand correction.
SCIENTIFIC REPORTS
(2022)
Review
Neurosciences
Youngshin Lim
Summary: This review discusses a group of genes encoding transcription factors that are important for cortical development and implicated in microcephaly.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Biology
Zane Kliesmete, Lucas Esteban Wange, Beate Vieth, Miriam Esgleas, Jessica Radmer, Matthias Huelsmann, Johanna Geuder, Daniel Richter, Mari Ohnuki, Magdelena Goetz, Ines Hellmann, Wolfgang Enard
Summary: This study investigates the role of TRNP1 protein in brain size and cortical folding in mammals. The results show a significant correlation between the evolution rate of TRNP1 protein and brain size, indicating that TRNP1 activity is likely affecting these traits. Additionally, the study finds a specific regulatory element of TRNP1 that co-evolves with cortical folding in Old World monkeys and apes. These findings provide insights into the evolutionary mechanisms of brain development.
Article
Multidisciplinary Sciences
Dan Dediu
Summary: The study suggests that the derived alleles of genes ASPM and Microcephalin related to brain growth and development may be associated with individual language traits and the probability of speaking a tone language. However, the research also indicates that this relationship may be influenced by differences between populations and languages.
Article
Medicine, General & Internal
Ehtisham ul Haq Makhdoom, Haseeb Anwar, Shahid Mahmood Baig, Ghulam Hussain
Summary: This study investigated the molecular genetic characterization of MCPH in Pakistani families, identifying novel mutations in the ASPM and CDK5RAP2 genes. The findings expand the mutational spectrum of the ASPM gene and add to the clinical spectrum of CDK5RAP2 mutations, demonstrating the utility of WES in the genetic diagnosis of genetically heterogeneous disorders like MCPH.
PAKISTAN JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Genetics & Heredity
Estephania Candelo, Ana Maria Sanz, Diana Ramirez-Montano, Lorena Diaz-Ordonez, Ana Maria Granados, Fernando Rosso, Julian Nevado, Pablo Lapunzina, Harry Pachajoa
Summary: This study reports a case of vertically transmitted ZIKV infection in a 28-year-old Colombian woman with multiple fetal abnormalities, including microcephaly. Whole-exome sequencing revealed two novel heterozygous nonsense mutations in the CDK5RAP2 gene associated with ZIKV congenital syndrome, indicating a neurological syndrome. The CDK5RAP2 gene plays a role in microtubule nucleation and centriole attachment, and mutations in this gene have been linked to primary microcephaly.
FRONTIERS IN GENETICS
(2021)
Article
Biology
Anabella P. Trigila, Francisco Pisciottano, Lucia F. Franchini
Summary: The study revealed that key inner ear genes and regulatory regions underwent adaptive evolution in the basal branch of mammals and along the human-specific branch, suggesting they may have played a significant role in the functional remodeling of the cochlea.
Article
Genetics & Heredity
Sami Zaqout, Atef Mannaa, Oliver Klein, Angelika Krajewski, Joachim Klose, Lena Luise-Becker, Ahmed Elsabagh, Khaled Ferih, Nadine Kraemer, Ethiraj Ravindran, Konstantin Makridis, Angela M. Kaindl
Summary: Proteomic changes in the cerebral cortices of Cdk5rap2 mutant mice were studied, revealing potential protein candidates for the disease-associated phenotype reported in MCPH3.
ANNALS OF HUMAN GENETICS
(2023)
Article
Multidisciplinary Sciences
Joan Garcia-Porta, Daniel Sol, Matt Pennell, Ferran Sayol, Antigoni Kaliontzopoulou, Carlos A. Botero
Summary: This study investigates the diversification dynamics of crows, finding that their global radiation is associated with the evolution of phenotypic and climatic niche.
NATURE COMMUNICATIONS
(2022)
Review
Cell Biology
Ana R. Costa-Brito, Isabel Goncalves, Cecilia R. A. Santos
Summary: Prolactin is a polypeptide hormone with a wide range of biological functions, particularly in relation to reproduction and parental behavior in vertebrates. It is mainly produced by cells in the anterior pituitary gland, but has also been found in other tissues during evolution. This review summarizes the importance of prolactin for brain function, the sources of prolactin in the central nervous system, and its local production and secretion.
NEURAL REGENERATION RESEARCH
(2022)
Article
Ecology
Nashaiman Pervaiz, Hongen Kang, Yiming Bao, Amir Ali Abbasi
Summary: This study investigated the molecular evolutionary history of a subset of MCPH genes in 48 mammalian species, finding that some of these genes have undergone positive selection in eutherian evolutionary history. However, no human-specific adoptive evolution was detected for any of the MCPH genes analyzed in the study.
BMC ECOLOGY AND EVOLUTION
(2021)
Review
Cell Biology
Michael Heide, Wieland B. Huttner
Summary: This review focuses on human-specific genes that are believed to have played a significant role in the expansion of the cerebral cortex during human evolution, discussing their expression and potential relevance to microcephaly. Additionally, other human-specific genes expressed during fetal human cortical development are examined for their possible involvement in microcephaly.
Article
Biology
Elia Benito-Gutierrez, Giacomo Gattoni, Manuel Stemmer, Silvia D. Rohr, Laura N. Schuhmacher, Jocelyn Tang, Aleksandra Marconi, Gaspar Jekely, Detlev Arendt
Summary: The study reveals overlapping expression of conserved transcription factors that specify the telencephalon in vertebrates in the chordate amphioxus. Specific co-expression is observed in the dorsal part of the anterior brain vesicle, referred to as Pars anterodorsalis (PAD). This suggests homology between the adult amphioxus brain vesicle PAD and the vertebrate telencephalon.
Article
Multidisciplinary Sciences
Luke Anderson-Trocme, Dominic Nelson, Shadi Zabad, Alex Diaz-Papkovich, Ivan Kryukov, Nikolas Baya, Mathilde Touvier, Ben Jeffery, Christian Dina, Helene Vezina, Jerome Kelleher, Simon Gravel
Summary: Population genetic models provide coarse representations of real-world ancestry, but this study used a large pedigree and genotype data to finely model and trace French Canadian ancestry. The loss of ancestral population structure and the emergence of spatial and regional structure highlights various population expansion models. Migration, genetic, and genealogical patterns were found within river networks in different regions of Quebec. The study also provides a simulated whole-genome sequence dataset for investigating population genetics at a high resolution.