Erratum: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability (European Journal of Human Genetics (2015) 23 (331-336) DOI: 10.1038/ejhg.2014.13);A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

European Journal of Human Genetics

Volumn 23, Issue 3, 2015, Pages 331-336

  Larti, Farzaneh ^a   Kahrizi, Kimia ^a   Musante, Luciana ^b   Hu, Hao ^b   Papari, Elahe ^a   Fattahi, Zohreh ^a   Bazazzadegan, Niloofar ^a   Liu, Zhe ^c   Banan, Mehdi ^a   Garshasbi, Masoud ^b,d   Wienker, Thomas F ^b   Ropers, H Hilger ^b   Galjart, Niels ^c   Najmabadi, Hossein ^a  

^a UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d TARBIAT MODARES UNIVERSITY   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

MICROTUBULE PROTEIN; CYTOPLASMIC LINKER PROTEIN 170; MICROTUBULE ASSOCIATED PROTEIN; STOP CODON; TUMOR PROTEIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY; CLINICAL ARTICLE; CLIP1 GENE; CONTROLLED STUDY; DENDRITE TRANSPORT; EXON; FAMILY STUDY; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC REGULATION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; IRANIAN (CITIZEN); LYMPHOBLASTOID CELL; MALE; MICROTUBULE; NERVE CELL CHARACTERISTICS AND FUNCTIONS; NERVE FIBER TRANSPORT; NERVOUS SYSTEM DEVELOPMENT; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; TISSUES; WESTERN BLOTTING; YOUNG ADULT; CONSANGUINITY; GENETICS; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; PEDIGREE; RECESSIVE GENE; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

ADULT; CODON, NONSENSE; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENETIC LOCI; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROTUBULE-ASSOCIATED PROTEINS; NEOPLASM PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84938421686     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.152     Document Type: Erratum

References (35)

1. Kaufman L, Ayub M, Vincent JB: The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disorders 2010; 2: 182209.
2. Najmabadi H, Motazacker MM, Garshasbi M et al: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genetics 2007; 121: 4348.
3. Najmabadi H, Hu H, Garshasbi M et al: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 5763.
4. Kuss A-W, Garshasbi M, Kahrizi K et al: Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genetics 2011; 129: 141148.
5. Jaworski J, Hoogenraad CC, Akhmanova A: Microtubule plus-end tracking proteins in differentiated mammalian cells. Int J Biochem Cell Biol 2008; 40: 619637.
6. Coquelle FM, Caspi M, Cordelieres FP et al: Lis1, Clip-170s key to the dynein/dynactin pathway. Mol Cell Biol 2002; 22: 30893102.
7. Komarova YA, Akhmanova AS, Kojima S-I, Galjart N, Borisy GG: Cytoplasmic linkerproteins promote microtubule rescue in vivo. J Cell Biol 2002; 159: 589599.
8. Akhmanova A, Mausset-Bonnefont A-L, Van Cappellen W et al: The microtubule plus-end-tracking protein clip-170 associates with the spermatid manchette and is essential for spermatogenesis. Genes Dev 2005; 19: 25012515.
9. Swiech L, Blazejczyk M, Urbanska M et al: Clip-170 and Iqgap1 cooperatively regulate dendrite morphology. J Neurosci 2011; 31: 45554568.
10. Neukirchen D, Bradke F: Cytoplasmic linker proteins regulate neuronal polarization through microtubule and growth cone dynamics. J Neurosci 2011; 31: 15281538.
11. Rü schendorf F, Nü rnberg P: Alohomora: a tool for linkage analysis using 10k SNP array data. Bioinformatics 2005; 21: 21232125.
12. Garshasbi M, Motazacker MM, Kahrizi K et al: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genetics 2006; 118: 708715.
13. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: Merlinrapid analysis of dense genetic maps using sparse gene flow trees. Nat Genetics 2001; 30: 97101.
14. Morton NE: Significance levels in complex inheritance. Am J Hum Genetics 1998; 62: 690697.
15. Hoogenraad CC, Akhmanova A, Grosveld F, De Zeeuw CI, Galjart N: Functional analysis of Clip-115 and its binding to microtubules. J Cell Sci 2000; 113: 22852297.
16. Hoogenraad CC, Koekkoek B, Akhmanova A et al: Targeted mutation of Cyln2 in the Williams syndrome critical region links Clip-115 haploinsufficiency to neurodevelopmental abnormalities in mice. Nat Genetics 2002; 32: 116127.
17. Tom Strachan AR: Hum Mol Genetics, 4th ed. Oxford, UK: Garland Science, 2010; p 781.
18. Akhmanova A, Steinmetz MO: Microtubule TIPs at a glance. J Cell Sci 2010; 123: 34153419.
19. Tanenbaum ME, Galjart N, Van Vugt MA, Medema RH: Clip-170 facilitates the formation of kinetochoremicrotubule attachments. EMBO J 2005; 25: 4557.
20. Goldstone S, Reyes C, Gay G et al: Tip1/Clip-170 protein is required for correct chromosome poleward movement in fission yeast. PLoS One 2010; 5: e10634.
21. Carvalho P, Gupta Jr ML, Hoyt MA, Pellman D: Cell cycle control of kinesin-mediated transport of Bik1 (Clip-170) regulates microtubule stability and dynein activation. Dev Cell 2004; 6: 815829.
22. Lantz VA, Miller KG: A class VI unconventional myosin is associated with a homologue of a microtubule-binding protein, cytoplasmic linker protein170, in neurons and at the posterior pole of Drosophila embryos. J Cell Biol 1998; 140: 897910.
23. De Zeeuw CI, Hoogenraad CC, Goedknegt E et al: Clip-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies. Neuron 1997; 19: 11871199.
24. Stepanova T, Smal I, Van Haren J et al: History-dependent catastrophes regulate axonal microtubule behavior. Curr Biol 2010; 20: 10231028.
25. Hoogenraad CC, Akhmanova A, Galjart N, De Zeeuw CI: Limk1 and Clip-115: linking cytoskeletal defects to Williams syndrome. Bioessays 2004; 26: 141150.
26. Schmidt N, Basu S, Sladecek S et al: Agrin regulates Clasp2-mediated capture of microtubules at the neuromuscular junction synaptic membrane. J Cell Biol 2012; 198: 421437.
27. Pierre P, Pepperkok R, Kreis TE: Molecular characterization of two functional domains of Clip-170 in vivo. J Cell Sci 1994; 107: 19091920.
28. Noritake J, Watanabe T, Sato K, Wang S, Kaibuchi K: Iqgap1: a key regulator of adhesion and migration. J Cell Sci 2005; 118: 20852092.
29. Goodson HV, Skube SB, Stalder R et al: Clip-170 interacts with dynactin complex and the APC-binding protein Eb1 by different mechanisms. Cell Motil Cytoskeleton 2003; 55: 156173.
30. Karki S, Holzbaur EL: Cytoplasmic dynein and dynactin in cell division and intracellular transport. Curr Opin Cell Biol 1999; 11: 4553.
31. Johnston JA, Illing ME, Kopito RR: Cytoplasmic dynein/dynactin mediates the assembly of aggresomes. Cell Motil Cytoskeleton 2002; 53: 2638.
32. Cosker KE, Courchesne SL, Segal RA: Action in the axon: generation and transport of signaling endosomes. Curr Opin Neurobiol 2008; 18: 270275.
33. Caspi M, Coquelle FM, Koifman C et al: Lis1 missense mutations variable phenotypes result from unpredictable alterations in biochemical and cellular properties. J Biol Chem 2003; 278: 3874038748.
34. Kholmanskikh SS, Koeller HB, Wynshaw-Boris A, Gomez T, Letourneau PC, Ross ME: Calcium-dependent interaction of Lis1 with Iqgap1 and Cdc42 promotes neuronal motility. Nat Neurosci 2005; 9: 5057.
35. Wynshaw-Boris A, Gambello MJ: Lis1 and dynein motor function in neuronal migration and development. Genes Dev 2001; 15: 639651.