Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models

Jayaraman D, Bae B-I, Walsh CA. The genetics of primary microcephaly. Annu Rev Genom Hum Genet. 2018;19:177–200.

Article  CAS  Google Scholar 

Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005;76:717–28.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Woods CG. and Parker A. Investigating microcephaly. Archives of Disease in Childhood. 2013;98:707–13.

Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, et al. CtIP mutations cause Seckel and Jawad syndromes. PLoS Genet. 2011;7:e1002310.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu F, Lee W-H. CtIP activates its own and cyclin D1 promoters via the E2F/RB pathway during G1/S progression. Mol Cell Biol. 2006;26:3124–34.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen P-L, Liu F, Cai S, Lin X, Li A, Chen Y, et al. Inactivation of CtIP leads to early embryonic lethality mediated by G1 restraint and to tumorigenesis by haploid insufficiency. Mol Cell Biol. 2005;25:3535–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yun MH, Hiom K. CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle. Nature. 2009;459:460–3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Davies OR, Forment JV, Sun M, Belotserkovskaya R, Coates J, Galanty Y, et al. CtIP tetramer assembly is required for DNA-end resection and repair. Nat Struct Mol Biol. 2015;22:150–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sartori AA, Lukas C, Coates J, Mistrik M, Fu S, Bartek J, et al. Human CtIP promotes DNA end resection. Nature. 2007;450:509–14.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. Am J Med Genet Part A. 2015;167:3148–52.

Article  CAS  Google Scholar 

Zhou Z, Liu Y, Gao S, Zhou M, Qi F, Ding N, et al. Excessive DNA damage mediates ECM degradation via the RBBP8/NOTCH1 pathway in sporadic aortic dissection. Biochim Biophys Acta (BBA)-Mol Basis Dis. 2022;1868:166303.

Article  CAS  Google Scholar 

Helms, C. Salting out Procedure for Human DNA extraction. In: The Donis-Keller Lab - Lab Manual Homepage. 2002.

Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, et al. A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet. 2016;135:157–70.

Article  CAS  PubMed  Google Scholar 

Singh N, Kashyap S. In silico identification and characterization of 1-aminocyclopropane-1-carboxylate deaminase from Phytophthora sojae. J Mol Modeling. 2012;18:4101–11.

Article  CAS  Google Scholar 

Verma A, Singh VK, Gaur S. Computational based functional analysis of Bacillus phytases. Comput Biol Chem. 2016;60:53–8.

Article  CAS  PubMed  Google Scholar 

Pramanik K, Soren T, Mitra S, Maiti TK. In silico structural and functional analysis of Mesorhizobium ACC deaminase. Comput Biol Chem. 2017;68:12–21.

Article  CAS  PubMed  Google Scholar 

Krüger DM, Ahmed A, Gohlke H. NMSim web server: integrated approach for normal mode-based geometric simulations of biologically relevant conformational transitions in proteins. Nucleic Acids Res. 2012;40:W310–W6.

Article  PubMed  PubMed Central  Google Scholar 

Xie Y, An J, Yang G, Wu G, Zhang Y, Cui L, et al. Enhanced enzyme kinetic stability by increasing rigidity within the active site. J Biol Chem. 2014;289:7994–8006.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Andres SN, Williams RS. CtIP/Ctp1/Sae2, molecular form fit for function. DNA Repair. 2017;56:109–17.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Peterson SE, Li Y, Wu-Baer F, Chait BT, Baer R, Yan H, et al. Activation of DSB processing requires phosphorylation of CtIP by ATR. Mol Cell. 2013;49:657–67.

Article  CAS  PubMed  Google Scholar 

Biovia DS. Discovery studio modeling environment. Release, 2017.

Wang H, Shi LZ, Wong CC, Han X, Hwang PY, Truong LN, et al. The interaction of CtIP and Nbs1 connects CDK and ATM to regulate HR–mediated double-strand break repair. PLoS Genet. 2013;9:e1003277.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Makharashvili N, Paull TT. CtIP: a DNA damage response protein at the intersection of DNA metabolism. DNA Repair. 2015;32:75–81.

Article  CAS  PubMed  Google Scholar 

Mozaffari NL, Pagliarulo F, Sartori AA. Human CtIP: a ‘double agent’in DNA repair and tumorigenesis. Seminars in Cell & Developmental Biology. Elsevier, 2021, p. 47–56.

Børglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, et al. A new locus for Seckel syndrome on chromosome 18p11. 31-q11. 2. Eur J Hum Genet. 2001;9:753–7.

Article  PubMed  Google Scholar 

Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, et al. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014;24:291–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, et al. A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. Gene. 2014;538:30–5.

Article  CAS  PubMed  Google Scholar 

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