Primary microcephaly with an unstable genome
- PDF / 1,106,641 Bytes
- 30 Pages / 595.276 x 790.866 pts Page_size
- 99 Downloads / 202 Views
REVIEW ARTICLE
Primary microcephaly with an unstable genome Shibin Xu1,2 · Xingxuan Wu1 · Bin Peng1 · Sheng‑Li Cao3 · Xingzhi Xu1 Received: 29 April 2020 / Revised: 24 June 2020 / Accepted: 30 July 2020 / Published online: 2 September 2020 © Shenzhen University School of Medicine; Fondazione Istituto FIRC di Oncologia Molecolare 2020
Abstract Autosomal recessive primary microcephaly, also known as MCPH, is a rare genetic condition where infants are born with small heads and brains. The causes of MCPH are often unknown or unclear. To date, 25 genes have been found to be associated with MCPH. Most of these genes serve similar roles in maintaining genome stability, being associated with centrosome and spindle function, chromosome dynamics, cell cycle regulation, cell division, brain development, neurogenesis, and/or the DNA damage response. In this review, we classify MCPH-associated genes based on their known functions, and propose potential novel functions of MCPH genes in DNA replication and/or the DNA replication stress response, and tumorigenesis. This classification provides a novel perspective on the underlying causes of MCPH and a comprehensive reference for future research. Keywords Microcephaly · Centrosome · Cell cycle · Brain development · Neurogenesis · Cell division Abbreviations BAF Barrier-to-autointegration factor BRCT Breast cancer carboxyl terminal domains CCAN Centromere-Associated Network CMG Cell division control protein 45 homolog (CDC45)/MCM2–7/DNA replication complex Go-Ichi-Ni-San (GINS) CNS Central nervous system CSCs Cancer stem cells DHA Docosahexaenoic acid LPC-DHA Lysophosphatidylcholine-DHA Shibin Xu and Xingxuan Wu contributed equally to this review. * Bin Peng [email protected] * Sheng‑Li Cao [email protected] * Xingzhi Xu [email protected] 1
Guangdong Key Laboratory for Genome Stability and Disease Prevention, Carson International Cancer Center, Marshall Laboratory of Biomedical Engineering, Shenzhen University School of Medicine, Shenzhen 518055, Guangdong, China
2
College of Life Sciences, Capital Normal University, Beijing 100083, China
3
Department of Chemistry, Capital Normal University, Beijing 100083, China
MCM Mini-chromosome maintenance (MCM) complex MCPH Autosomal primary microcephaly MTOC Microtubule organizing centers NE Nuclear envelope NESCs Neuroepithelial stem cells NPCs Nuclear pore complexes NRC Nuclear hormone receptor transcriptional coactivator Nups Nucleoporins PCM Pericentriolar material PcG The polycomb group complex PRC1 Protein-regulating cytokinesis 1 RA Retinoic acid RB Retinoblastoma-associated protein SAC Spindle-assembly checkpoint SCL/TAL1 T-cell acute lymphocytic leukemia protein 1(TAL1) TrxG The trithorax group complex
Introduction Microcephaly, derived from the Greek words for “small” (μικρό) and “head” (κεφάλι), is a rare neurological birth defect characterized by a significantly smaller head than normal. For a clinical diagnosis of microcephaly, the occipital frontal circumference diameter must be three
Data Loading...
