GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

Human Genetics

Volumn 135, Issue 2, 2016, Pages 245-251

  Shamseldin, Hanan E ^a   Bennett, Alexis H ^b   Alfadhel, Majid ^c   Gupta, Vandana ^b   Alkuraya, Fowzan S ^a,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN C3; CREATINE KINASE; CYTOPLASM PROTEIN; GOLGA2 PROTEIN; MESSENGER RNA; MORPHOLINO OLIGONUCLEOTIDE; UNCLASSIFIED DRUG; AUTOANTIGEN; GOLGIN SUBFAMILY A MEMBER 2; MEMBRANE PROTEIN;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BRACHYCEPHALY; BRAIN ATROPHY; BRAIN SIZE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; EMBRYO; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; GENE FUNCTION; GENE OVEREXPRESSION; GENE SILENCING; GOLGI COMPLEX; HOMOZYGOSITY; HUMAN; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; LOSS OF FUNCTION MUTATION; MICROCEPHALY; MICROGNATHIA; MOUSE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYELINATION; MYOPATHY; NEUROMUSCULAR DISEASE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RAT; SEIZURE; SKELETAL MUSCLE; STRABISMUS; ZEBRA FISH; ALLELE; AMINO ACID SEQUENCE; ANIMAL; CHROMOSOMAL MAPPING; DEFICIENCY; EMBRYOLOGY; EXOME; EXON; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; METABOLISM; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE; PROCEDURES;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; AUTOANTIGENS; CHROMOSOME MAPPING; EXOME; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENOME-WIDE ASSOCIATION STUDY; GOLGI APPARATUS; HUMANS; INFANT; MEMBRANE PROTEINS; MICE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MORPHOLINOS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PEDIGREE; PHENOTYPE; RNA, MESSENGER; ZEBRAFISH;

EID: 84954382778     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1632-8     Document Type: Article

References (28)

1. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA (2015) Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell reports 10:148–161
2. Alkuraya FS (2010) Autozygome decoded. Genetics in Medicine 12:765–771
3. Alkuraya FS (2012) Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Curr Protoc Hum Genet 6.12.1–6.12.13
4. Alkuraya FS (2013) The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet 132:1197–1211
5. Alkuraya FS (2014) Genetics and genomic medicine in Saudi Arabia. Mol Genet Genomic Med 2:369–378
6. Alkuraya FS (2015a) Human knockout research: new horizons and opportunities. Trends Genet 31:108–115
7. Alkuraya FS (2015b) Primordial dwarfism: an update. Curr Opin Endocrinol Diabetes Obes 22:55–64
8. Allan VJ, Thompson HM, McNiven MA (2002) Motoring around the Golgi. Nat Cell Biol 4:E236–E242
9. Alsalem AB, Halees AS, Anazi S, Alshamekh S, Alkuraya FS (2013) Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation. PLoS Genet 9:e1004030
10. Barr FA, Nakamura N, Warren G (1998) Mapping the interaction between GRASP65 and GM130, components of a protein complex involved in the stacking of Golgi cisternae. EMBO J 17:3258–3268
11. Ben-Omran T, Alsulaiman R, Kamel H, Shaheen R, Alkuraya FS (2015) Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy. Am J Med Genet A 167A:2478
12. Egea G, Serra-Peinado C, Gavilan MP, Rios RM (2015) Cytoskeleton and Golgi-apparatus interactions: a two-way road of function and structure. Cell Health Cytoskeleton 7
13. Gurel PS, Hatch AL, Higgs HN (2014) Connecting the cytoskeleton to the endoplasmic reticulum and Golgi. Curr Biol 24:R660–R672
14. Hennet T, Cabalzar J (2015) Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction. Trends Biochem Sci 40:377
15. Kim S, Hill A, Warman ML, Smits P (2012) Golgi disruption and early embryonic lethality in mice lacking USO1. PLoS One 7:e50530
16. Lowe M (2011) Structural organization of the Golgi apparatus. Curr Opin Cell Biol 23:85–93
17. Lowe M, Rabouille C, Nakamura N, Watson R, Jackman M, Jämsä E, Rahman D, Pappin DJ, Warren G (1998) Cdc2 kinase directly phosphorylates the cis-Golgi matrix protein GM130 and is required for Golgi fragmentation in mitosis. Cell 94:783–793
18. Lowe M, Gonatas NK, Warren G (2000) The mitotic phosphorylation cycle of the cis-Golgi matrix protein GM130. J Cell Biol 149:341–356
19. Nakamura N, Rabouille C, Watson R, Nilsson T, Hui N, Slusarewicz P, Kreis TE, Warren G (1995) Characterization of a cis-Golgi matrix protein, GM130. J Cell Biol 131:1715–1726
20. Nakamura N, Lowe M, Levine TP, Rabouille C, Warren G (1997) The vesicle docking protein p115 binds GM130, a cis-Golgi matrix protein, in a mitotically regulated manner. Cell 89:445–455
21. Potelle S, Klein A, Foulquier F (2015) Golgi post-translational modifications and associated diseases. J Inherit Metab Dis 38:1–11
22. Santiago-Tirado FH, Bretscher A (2011) Membrane-trafficking sorting hubs: cooperation between PI4P and small GTPases at the trans-Golgi network. Trends Cell Biol 21:515–525
23. Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS (2014) Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res 24:291–299
24. Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M (2015) Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. Genet Med
25. Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS (2015) RTTN mutations cause primary microcephaly and primordial Dwarfism in humans. Am J Hum Genet 97:862–868
26. Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L, Manning DK, Dwyer ND, Moran JL, Prysak M (2010) Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med 362:206–216
27. Wei J-H, Zhang ZC, Wynn RM, Seemann J (2015) GM130 Regulates Golgi-Derived Spindle Assembly by Activating TPX2 and Capturing Microtubules. Cell 162:287–299
28. Yadav S, Puri S, Linstedt AD (2009) A primary role for Golgi positioning in directed secretion, cell polarity, and wound healing. Mol Biol Cell 20:1728–1736