Objective: To identify genetic variation involved in primary microcephaly.
Methods: In present study we identified 4 generation Saudi family showing primary microcephaly. We performed whole exome sequencing along with Sanger sequencing to find the genetic defect in this family. This study was conducted in King Abdulaziz University started from 2016 and the results presented in this manuscript are from one of the family.
Results: Two novel missense variants (c.982G>A and c.1273T>A) were identified in heterozygous state in exon 8 of MCPH1 gene. The detected missense variants cause a tyrosine to asparagine substitution of residue 425 and a valine to isoleucine substitution at residue 310. MCPH1 gene encodes a DNA damage response protein. The encoded protein play a role in G2/M DNA damage checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. The respective mutation was ruled out in 100 control samples.
Conclusion: We found novel compound heterozygous mutation in Saudi family that will help to build database for genetic mutations in population and pave way to devise strategies to tackle such disorders in future.
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http://dx.doi.org/10.17712/nsj.2018.4.20180095 | DOI Listing |
Histopathology
January 2025
Division of Molecular Medicine, Leeds Institute of Medical Research, St James's University Hospital, University of Leeds, Leeds, UK.
Aims: Threonine and tyrosine kinase (TTK) is up-regulated in triple-negative breast cancer (TNBC), yet its expression in patients undergoing neoadjuvant chemotherapy (NACT) remains unexplored. This investigation aims to assess TTK protein expression in treatment-naïve pre-treatment cores and paired pre- and post-NACT breast cancer (BC) cohorts, as well as its correlation with microcephaly 1 (MCPH1) protein expression.
Methods And Results: Transcriptomic data were sourced from the Gene Expression Omnibus microarray database for mRNA expression analysis.
Int J Cancer
December 2024
Biomedical Center, Faculty of Medicine, Charles University Pilsen, Pilsen, Czech Republic.
A double primary colorectal cancer (CRC) in a familial setting signals a high risk of CRC. In order to identify novel CRC susceptibility genes, we whole-exome sequenced germline DNA from nine persons with a double primary CRC and a family history of CRC. The detected variants were processed by bioinformatics filtering and prioritization, including STRING protein-protein interaction and pathway analysis.
View Article and Find Full Text PDFVavilovskii Zhurnal Genet Selektsii
September 2024
Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia Novosibirsk State University, Novosibirsk, Russia.
Reprod Domest Anim
July 2024
College of Animal Science and Veterinary Medicine, Heilongjiang Bayi Agricultural University, Daqing, China.
Sheep are important herbivorous domestic animal globally, and the Chinese indigenous sheep breed has a multitude of economically significant variations due to the diverse geographical and ecological conditions. In particular, certain native breeds exhibit a visible high litter size phenotype due to the selection pressure of natural and artificial for thousands of years, offering an ideal animal model for investigating sheep's fecundity. In this study, selective signal analysis was performed on public whole-genome sequencing data from 60 sheep across eight breeds to identify candidate genes related to litter size.
View Article and Find Full Text PDFCell Syst
June 2024
Laboratory of Integrative Systems Physiology, Institute of Bioengineering, École Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland. Electronic address:
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