BMS1 Is Mutated in Aplasia Cutis Congenita

PLoS Genetics

Volumn 9, Issue 6, 2013, Pages

  Marneros, Alexander G ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BMS1 PROTEIN; GUANOSINE TRIPHOSPHATASE; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; PROTEIN P21; RNA 18S; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL CYCLE; CELL PROLIFERATION; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EXOME; FEMALE; FIBROBLAST; G1 PHASE CELL CYCLE CHECKPOINT; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; PROTEOMICS; RIBOSOME; RNA PROCESSING; SKIN APLASIA; SMALL RIBOSOMAL SUBUNIT;

CELL PROLIFERATION; CHROMOSOME MAPPING; ECTODERMAL DYSPLASIA; FEMALE; GENETIC LINKAGE; GENOME, HUMAN; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MORPHOGENESIS; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEOMICS; RIBOSOMES; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, RIBOSOMAL, 18S; SCALP;

EID: 84879625484     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003573     Document Type: Article

References (34)

1. Evers ME, Steijlen PM, Hamel BC, (1995) Aplasia cutis congenita and associated disorders: an update. Clin Genet 47: 295-301.
2. Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, et al. (2005) Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 37: 1345-1350.
3. Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, et al. (2011) Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet 88: 574-585.
4. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, et al. (2011) Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet 89: 328-333.
5. Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, et al. (2012) RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome. American journal of human genetics 91: 391-395.
6. Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, et al. (2013) Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome. American journal of human genetics 92: 621-626.
7. Wegierski T, Billy E, Nasr F, Filipowicz W, (2001) Bms1p, a G-domain-containing protein, associates with Rcl1p and is required for 18S rRNA biogenesis in yeast. RNA 7: 1254-1267.
8. Gelperin D, Horton L, Beckman J, Hensold J, Lemmon SK, (2001) Bms1p, a novel GTP-binding protein, and the related Tsr1p are required for distinct steps of 40S ribosome biogenesis in yeast. RNA 7: 1268-1283.
9. Karbstein K, Jonas S, Doudna JA, (2005) An essential GTPase promotes assembly of preribosomal RNA processing complexes. Mol Cell 20: 633-643.
10. Karbstein K, Doudna JA, (2006) GTP-dependent formation of a ribonucleoprotein subcomplex required for ribosome biogenesis. J Mol Biol 356: 432-443.
11. Donati G, Montanaro L, Derenzini M, (2012) Ribosome biogenesis and control of cell proliferation: p53 is not alone. Cancer research 72: 1602-1607.
12. Walmod PS, Hartmann-Petersen R, Prag S, Lepekhin EL, Ropke C, et al. (2004) Cell-cycle-dependent regulation of cell motility and determination of the role of Rac1. Exp Cell Res 295: 407-420.
13. He Y, Brown MA, Rothnagel JA, Saunders NA, Smith R, (2005) Roles of heterogeneous nuclear ribonucleoproteins A and B in cell proliferation. J Cell Sci 118: 3173-3183.
14. Wong CC, Traynor D, Basse N, Kay RR, Warren AJ, (2011) Defective ribosome assembly in Shwachman-Diamond syndrome. Blood 118: 4305-4312.
15. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, et al. (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 43: 20-22.
16. Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, et al. (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 21: 169-175.
17. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, et al. (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19: 32-38.
18. Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, et al. (2001) Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 104: 195-203.
19. Maida Y, Yasukawa M, Furuuchi M, Lassmann T, Possemato R, et al. (2009) An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA. Nature 461: 230-235.
20. Mitchell JR, Wood E, Collins K, (1999) A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402: 551-555.
21. Narla A, Hurst SN, Ebert BL, (2011) Ribosome defects in disorders of erythropoiesis. Int J Hematol 93: 144-149.
22. Deisenroth C, Zhang Y, (2010) Ribosome biogenesis surveillance: probing the ribosomal protein-Mdm2-p53 pathway. Oncogene 29: 4253-4260.
23. Wang Y, Luo Y, Hong Y, Peng J, Lo L, (2012) Ribosome biogenesis factor Bms1-like is essential for liver development in zebrafish. Journal of genetics and genomics = Yi chuan xue bao 39: 451-462.
24. Freed EF, Baserga SJ, (2010) The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. Nucleic acids research 38: 4798-4806.
25. Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, et al. (2002) A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. American journal of human genetics 71: 1443-1449.
26. Parker SB, Eichele G, Zhang P, Rawls A, Sands AT, et al. (1995) p53-independent expression of p21Cip1 in muscle and other terminally differentiating cells. Science 267: 1024-1027.
27. Ponten F, Berne B, Ren ZP, Nister M, Ponten J, (1995) Ultraviolet light induces expression of p53 and p21 in human skin: effect of sunscreen and constitutive p21 expression in skin appendages. J Invest Dermatol 105: 402-406.
28. Di Cunto F, Topley G, Calautti E, Hsiao J, Ong L, et al. (1998) Inhibitory function of p21Cip1/WAF1 in differentiation of primary mouse keratinocytes independent of cell cycle control. Science 280: 1069-1072.
29. Topley GI, Okuyama R, Gonzales JG, Conti C, Dotto GP, (1999) p21(WAF1/Cip1) functions as a suppressor of malignant skin tumor formation and a determinant of keratinocyte stem-cell potential. Proc Natl Acad Sci U S A 96: 9089-9094.
30. Bedelbaeva K, Snyder A, Gourevitch D, Clark L, Zhang XM, et al. (2010) Lack of p21 expression links cell cycle control and appendage regeneration in mice. Proc Natl Acad Sci U S A 107: 5845-5850.
31. Abecasis GR, Cherny SS, Cookson WO, Cardon LR, (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30: 97-101.
32. Pestov DG, Lapik YR, Lau LF, (2008) Assays for ribosomal RNA processing and ribosome assembly. Curr Protoc Cell Biol Chapter 22: Unit 22 11.
33. Rouquette J, Choesmel V, Gleizes PE, (2005) Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells. EMBO J 24: 2862-2872.
34. Hadjiolova KV, Nicoloso M, Mazan S, Hadjiolov AA, Bachellerie JP, (1993) Alternative pre-rRNA processing pathways in human cells and their alteration by cycloheximide inhibition of protein synthesis. Eur J Biochem 212: 211-215.