Literature DB >> 33946187

Molecular Genetics of Microcephaly Primary Hereditary: An Overview.

Nikistratos Siskos1, Electra Stylianopoulou1, Georgios Skavdis1, Maria E Grigoriou1.   

Abstract

MicroCephaly Primary Hereditary (MCPH) is a rare congenital neurodevelopmental disorder characterized by a significant reduction of the occipitofrontal head circumference and mild to moderate mental disability. Patients have small brains, though with overall normal architecture; therefore, studying MCPH can reveal not only the pathological mechanisms leading to this condition, but also the mechanisms operating during normal development. MCPH is genetically heterogeneous, with 27 genes listed so far in the Online Mendelian Inheritance in Man (OMIM) database. In this review, we discuss the role of MCPH proteins and delineate the molecular mechanisms and common pathways in which they participate.

Entities:  

Keywords:  MCPH; MCPH1–MCPH27; cell cycle; microcephaly; molecular genetics

Year:  2021        PMID： 33946187     DOI： 10.3390/brainsci11050581

Source DB:  PubMed          Journal:  Brain Sci        ISSN： 2076-3425


  173 in total

1.  Unstable kinetochore-microtubule capture and chromosomal instability following deletion of CENP-E.

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Journal:  Dev Cell       Date:  2002-09       Impact factor: 12.270

2.  Cdk5rap2 interacts with pericentrin to maintain the neural progenitor pool in the developing neocortex.

Authors:  Joshua J Buchman; Huan-Chung Tseng; Ying Zhou; Christopher L Frank; Zhigang Xie; Li-Huei Tsai
Journal:  Neuron       Date:  2010-05-13       Impact factor: 17.173

3.  The relative ratio of condensin I to II determines chromosome shapes.

Authors:  Keishi Shintomi; Tatsuya Hirano
Journal:  Genes Dev       Date:  2011-06-29       Impact factor: 11.361

4.  Diagnostic Approach to Primary Microcephaly.

Authors:  Maja von der Hagen
Journal:  Neuropediatrics       Date:  2017-05-03       Impact factor: 1.947

5.  Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Authors:  Duane L Guernsey; Haiyan Jiang; Julie Hussin; Marc Arnold; Khalil Bouyakdan; Scott Perry; Tina Babineau-Sturk; Jill Beis; Nadine Dumas; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Christine Macgillivray; Mathew Nightingale; Lysanne Patry; Andrea L Rideout; Aidan Thomas; Andrew Orr; Ingrid Hoffmann; Jacques L Michaud; Philip Awadalla; David C Meek; Mark Ludman; Mark E Samuels
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

6.  Drosophila Cep135/Bld10 maintains proper centriole structure but is dispensable for cartwheel formation.

Authors:  Hélio Roque; Alan Wainman; Jennifer Richens; Kasia Kozyrska; Anna Franz; Jordan W Raff
Journal:  J Cell Sci       Date:  2012-09-12       Impact factor: 5.285

7.  Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

Authors:  Julie Desir; Marie Cassart; Philippe David; Patrick Van Bogaert; Marc Abramowicz
Journal:  Am J Med Genet A       Date:  2008-06-01       Impact factor: 2.802

8.  Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

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Journal:  Nat Genet       Date:  2010-10-03       Impact factor: 38.330

9.  Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.

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Journal:  J Biol Chem       Date:  2009-01-08       Impact factor: 5.157

10.  A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Authors:  Shinya Yamamoto; Manish Jaiswal; Wu-Lin Charng; Tomasz Gambin; Ender Karaca; Ghayda Mirzaa; Wojciech Wiszniewski; Hector Sandoval; Nele A Haelterman; Bo Xiong; Ke Zhang; Vafa Bayat; Gabriela David; Tongchao Li; Kuchuan Chen; Upasana Gala; Tamar Harel; Davut Pehlivan; Samantha Penney; Lisenka E L M Vissers; Joep de Ligt; Shalini N Jhangiani; Yajing Xie; Stephen H Tsang; Yesim Parman; Merve Sivaci; Esra Battaloglu; Donna Muzny; Ying-Wooi Wan; Zhandong Liu; Alexander T Lin-Moore; Robin D Clark; Cynthia J Curry; Nichole Link; Karen L Schulze; Eric Boerwinkle; William B Dobyns; Rando Allikmets; Richard A Gibbs; Rui Chen; James R Lupski; Michael F Wangler; Hugo J Bellen
Journal:  Cell       Date:  2014-09-25       Impact factor: 66.850
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  7 in total

1.  A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly.

Authors:  Slawomir Bartoszewski; Mateusz Dawidziuk; Natalia Kasica; Roma Durak; Marta Jurek; Aleksandra Podwysocka; Dorothy Lys Guilbride; Piotr Podlasz; Cecilia Lanny Winata; Pawel Gawlinski
Journal:  Cells       Date:  2022-09-01       Impact factor: 7.666

2.  The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.

Authors:  Yaru Wang; Wen Zong; Wenli Sun; Chengyan Chen; Zhao-Qi Wang; Tangliang Li
Journal:  Cells       Date:  2022-08-31       Impact factor: 7.666

3.  Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.

Authors:  Ipek Ilgin Gönenc; Alexander Wolff; Julia Schmidt; Arne Zibat; Christian Müller; Lukas Cyganek; Loukas Argyriou; Markus Räschle; Gökhan Yigit; Bernd Wollnik
Journal:  Hum Mol Genet       Date:  2022-07-07       Impact factor: 5.121

4.  Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Authors:  Heidemarie Neitzel; Raymonda Varon; Sana Chughtai; Josephine Dartsch; Véronique Dutrannoy-Tönsing; Peter Nürnberg; Gudrun Nürnberg; Michal Schweiger; Martin Digweed; Gabriele Hildebrand; Karl Hackmann; Manuel Holtgrewe; Nanette Sarioglu; Bernt Schulze; Denise Horn; Karl Sperling
Journal:  Hum Genet       Date:  2022-05-10       Impact factor: 5.881

5.  Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Authors:  Mateusz Dawidziuk; Tomasz Gambin; Ewelina Bukowska-Olech; Dorota Antczak-Marach; Magdalena Badura-Stronka; Piotr Buda; Edyta Budzynska; Jennifer Castaneda; Tatiana Chilarska; Elzbieta Czyzyk; Anna Eckersdorf-Mastalerz; Jolanta Fijak-Moskal; Dorota Gieruszczak-Bialek; Ewelina Glodek-Brzozowska; Alicja Goszczanska-Ciuchta; Malgorzata Grzeszykowska-Podymniak; Barbara Gurda; Anna Jakubiuk-Tomaszuk; Ewa Jamroz; Magdalena Janeczko; Dominika Jedlińska-Pijanowska; Marta Jurek; Dagmara Karolewska; Adela Kazmierczak; Teresa Kleist; Iwona Kochanowska; Malgorzata Krajewska-Walasek; Katarzyna Kufel; Anna Kutkowska-Kaźmierczak; Agata Lipiec; Dorota Maksym-Gasiorek; Anna Materna-Kiryluk; Hanna Mazurkiewicz; Michał Milewski; Tatsiana Pavina-Guglas; Aleksandra Pietrzyk; Renata Posmyk; Antoni Pyrkosz; Mariola Rudzka-Dybala; Ryszard Slezak; Marzena Wisniewska; Zofia Zalewska-Miszkurka; Elzbieta Szczepanik; Ewa Obersztyn; Monika Bekiesinska-Figatowska; Pawel Gawlinski; Wojciech Wiszniewski
Journal:  Genes (Basel)       Date:  2021-12-18       Impact factor: 4.096

Review 6.  Multifaceted Microcephaly-Related Gene MCPH1.

Authors:  Martina Kristofova; Alessandro Ori; Zhao-Qi Wang
Journal:  Cells       Date:  2022-01-14       Impact factor: 6.600

Review 7.  Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.

Authors:  Sami Zaqout; Angela M Kaindl
Journal:  Front Cell Dev Biol       Date:  2022-01-17
  7 in total

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