Recent advances in the study of somatic mosaicism and diseases other than cancer

Current Opinion in Genetics and Development

Volumn 26, Issue , 2014, Pages 73-78

  Erickson, Robert P ^a  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; 2 HYDROXYGLUTARIC ACID; ARGININE; CYSTEINE; GUANINE NUCLEOTIDE BINDING PROTEIN; HISTIDINE; HYPOXIA INDUCIBLE FACTOR 1ALPHA; ISOCITRATE DEHYDROGENASE; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE B; SERINE;

AGGF1 GENE; AKT1 GENE; ANGIOOSTEOHYPERTROPHY SYNDROME; CONGENITAL DISORDER; CONGENITAL LIPOMATOUS OVERGROWTH WITH VASCULAR EPIDERMAL AND SKELETAL SYNDROME; COPY NUMBER VARIATION; ENCHONDROMATOSIS; GENE; GENE FREQUENCY; GNAQ GENE; HUMAN; IDH1 GENE; IDH2 GENE; MALIGNANT NEOPLASTIC DISEASE; MOSAICISM; MULTIPLE CANCER; NEUROLOGIC DISEASE; OSTEOCHONDROMA; PIK3CA GENE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SOMATIC MOSAICISM; SOMATIC MUTATION; STURGE WEBER SYNDROME; AMINO ACID SUBSTITUTION; CELL PROLIFERATION; CLOVES SYNDROME; DEVELOPMENTAL STAGE; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; ENZYME SPECIFICITY; GENE ACTIVITY; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GERM LINE; NONHUMAN; SRE GENE; BIOLOGICAL MODEL; CONGENITAL BLOOD VESSEL MALFORMATION; CYTOLOGY; EMBRYOLOGY; GENETIC PREDISPOSITION; GENETICS; LIPOMA; METABOLISM; MITOSIS; MUSCULOSKELETAL SYSTEM MALFORMATION; NERVOUS SYSTEM; NEVUS;

DNA COPY NUMBER VARIATIONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KLIPPEL-TRENAUNAY-WEBER SYNDROME; LIPOMA; MITOSIS; MODELS, GENETIC; MOSAICISM; MUSCULOSKELETAL ABNORMALITIES; NERVOUS SYSTEM; NEVUS; PROTEUS SYNDROME; VASCULAR MALFORMATIONS;

EID: 84904565419     PISSN: 0959437X     EISSN: 18790380     Source Type: Journal    
DOI: 10.1016/j.gde.2014.06.001     Document Type: Review

References (56)

1. Erickson R.P. Somatic gene mutation and human disease other than cancer. Mutat Res 2003, 543:125-136.
2. Erickson R.P. Somatic gene mutation and human disease other than cancer: an update. Mutat Res 2010, 75:96-106.
3. Forsberg L.A., Absher D., Dumanski J.P. Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet 2012, 50:1-10.
4. Biesecker L.G., Spinner N.B. A genetic view of mosaicism and human disease. Nat Rev Genet 2013, 14:307-320.
5. Harper P.S. A Short History of Medical Genetics 2008, Oxford University Press, New York, NY.
6. Cassidy S.B., Lai L.-W., Erickson R.P., Magnuson L., Thomas E., Gendron R., Hermann J. Trisomy 15 with loss of paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 1992, 51:701-708.
7. Choate K.A., Lu Y., Zhou J., Choi M., Elias P.M., Farhi A., et al. Mitotic recombination I patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 2010, 330:94-97.
8. Coventry A., Bull-Otterson L.M., et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun 2010, 1:131.
9. MacArthur D.G., Balasubramanian S., Frankish A., Huang N., et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012, 335:823-828.
10. Lohmueller K.E., Indap A.R., Schmidt S., Boyko A.R., Hernandez R.D., Hubisz M.J., Sninsky J.J., White T.J., Sunyaev S.R., Nielsen R., Clark A.G., Bustamente C.D. Proportionally more deleterious genetic variation in European than African populations. Nature 2008, 451:994-997.
11. Pelak K., Shianna K.V., Ge D., Maia J.M., et al. The characterization of twenty sequenced human genomes. PLoS Genet 2010, 10.1371/journal.pgen.1001111.
12. Omoyinmi E., Gomes S.M., Standing A., Rowczenio D.M., Eleftheriou D., Klein N., Arostegui J.I., Lachmann H.J., Hawkins P.N., Brogan P.A. Whole-exome sequencing revealing somatic NLRP3 Mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheumatol 2014, 66:197-202.
13. Hasegawa K., Ohno S., Kimura H., Itoh H., Maklyama T., Yoshida Y., Horie M. Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism. Clin Genet 2014, 10.1111/cge.12357.
14. Yu L., Bennett J.T., Wynn J., Carvill G.L., Cheung Y.H., Shen Y., Mychaliska G.B., et al. Whole exome sequencing identifies de novo mutations in nGATA6 associated with congenital diaphragmatic hernia. J Med Genet 2013, 10.1136/jmedgenet-201-101989.
15. Goriely A., Wilkie A.O.M. Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet 2012, 90:175-200.
16. Li R., Montpetit A., Rousseau M., Wu S.Y.M., Greenwood C.M.T., Spector T.D., Pollak M., Polychronakos C., Richards J.B. Somatic point mutations occurring early in development: a monozygotic twin study. J Med Genet 2014, 51:28-34.
17. Jonkman M.F., Pasmooij A.M.G. Revertant mosaicism-patchwork in the skin. N Engl J Med 2009, 360:1680-1682.
18. Boztug K., Germeshausen M., Diez I.A., Gulacsy V., Diestelhorst J., Ballmaier M., Welte K.L., Maródi L., Chernyshova L.J., Klein C. Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. Clin Genet 2008, 74:68-74.
19. Nishikomori R., Akutagawa H., Maruyama K. X-linked ectodermal dysplasia and immunodeficiency cause by reversion mosaicism of NEMO reveals a critical role for NEMO in T-cell development and/or survival. Blood 2004, 103:4565-4572.
20. Walsh K.M., Bracken M.B., Murk W.K., Hoh J., DeWan A.T. Association between reduced copy-number at T-cell receptor gamma (TCRγ) and childhood allergic asthma: a possible role for somatic mosaicism. Mutat Res 2010, 690:89-94.
21. Kato M., Kanai M., Soma O., Takusa Y., Kimura T., Numakura C., Matsuki T. Mutation of the double cortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis. Ann Neurol 2001, 50:547-551.
22. Forsberg L.A., Rasi C., Razzaghian H.R., Pakalapati G., Waite L., et al. Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet 2012, 90:217-228.
23. Moreno-De-Luca D., Consortium SGENE., Mulle J.G., Simons Simplex Collection Genetics Consortium, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010, 87:618-630.
24. Williams N.M., Franke B., Mick E., Anney R.J.L., Freitag C.M., Gill M.A., O'Donovan M.C., et al. Attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. Am J Psychiatry 2012, 169:195-204.
25. Pinto D., Pagnamenta A.T., Klei L., Anney R., Merico D. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 4:368-372.
26. Levy D., Ronemus M., Yamrom B., Lee Y., Leotta A., Kendall J., Marks S., Lakshmi B., et al. Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 2011, 70:886-897.
27. Mulle J.G., Dodd A.F., McGrath J.A., Wolyniec P.S., Mitchell A.A., et al. Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet 2010, 87:229-236.
28. Levinson D.F., Duan J., Oh S., Wang K., Sanders A.R., Shi J., et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 2011, 168:302-316.
29. Conlin L.K., Thiel B.D., Bonnemann C.G., Medne L., Ernst L.M., et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 2010, 19:1263-1275.
30. Salo-Mullen E.E., Shia J., Brownell I., Allen P., Girotra M., Robson M.E., Offit K., Guillem J.G., Markowitz A.J., Stadler Zk. Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. Fam Cancer 2014, 10.1007/s10689-014-9709-4.
31. Pham J., Shaw C., Pursley A., Hixson P., Sampath S., Roney E., Gambin T., Kang S-H.L., et al. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases. Eur J Hum Genet 2014, 10.1038/ejhg.2013.285.
32. Veeramah K.R., Johnstone L., Karafet T.M., Wolf D., Sprissler R., Salogiannis J., Barth-Maron A., Greenberg M.E., Stuhlmann T., Weinert S., Jentsch T.J., Pazzi M., Restifo L.L., Talwar D., Erickson R.P., Hammer M.F. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013, 54:1270-1284.
33. Liehr T., Karamysheva T., Merkas M., Brecevic L., Hamid A.B., et al. Somatic mosaicism in cases with small supernumerary marker chromosomes. Curr Genom 2010, 11:432-439.
34. Lindhout D. Somatic mosaicism as a basic epileptogenic mechanism?. Brain 2008, 131:900-901.
35. Pretto D.I., Mendoza-Morales G., Lo J., Cao R., Hadd A., Latham G.J., Durbin-Johnson B.H., Gagerman R., Tassone G. CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles. J Med Genet 2014, 10.1136/jmedgenet-2013-102021.
36. Freeze H.H., Chong J.X., Bamshad M.J., Ng B.G. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 2014, 94:161-175.
37. Ng B.G., Buckingham K.J., Raymond K., Kircher M., Turner E.H., He M., Smith J.D., Eroshkin A., Szybowska M., et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet 2013, 92:632-636.
38. Cohen M.M. The Elephant Man did not have neurofibromatosis. Proc Greenwood Genet Ctr 1986, 6:187-192.
39. Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987, 16:899-906.
40. Zhou X.-P., Marsh D.J., Hampel H., Mulliken J.B., Gimm O., Eng C. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet 2000, 9:765-768.
41. Lindhurst M.J., Sapp J.C., Teer J.K., Johnston J.J., Finn E.M., Peters K., et al. A mosaic activating mutation in AKT1 Associated with the Proteus syndrome. N Engl J Med 2011, 365:611-619.
42. Jacob A.G., Driscoll D.J., Shaughnessy W.J., Stanson A.W., Clay R.P., Gloviczki P. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc 1998, 73:28-36.
43. Hu Y., Li L., Seidelmann S.B., Timur A.A., Shen P.H., Driscoll D.J., Wang Q.K. Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. Ann Hum Genet 2008, 72:636-643.
44. Chen D., Li1 L., Tu X., Yin Z., Wang Q. Functional characterization of Klippel-Trenaunay syndrome gene AGGF1 identifies a novel angiogenic signaling pathway for specification of vein differentiation and angiogenesis during embryogenesis. Hum Mol Genet 2013, 22:963-976.
45. Lewis R.J., Ketcham A.S. Maffucci's syndrome: functional and neoplastic significance. Case report and review of the literature. J Bone Joint Surg Am 1973, 55:1465-1479.
46. Pansuriya T.C., van Eijk R., d'Adamo P., van Ruler M.A.J.H., Kuijjer M.L., Oosting J., et al. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011, 43:1256-1261.
47. Vissers L.E.L.M., Fano V., Martinelli D., Campos-Xavier B., Barbuti D., et al. Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A 2011, 155:2609-2616.
48. Maria B.L., Neufeld J.A., Rosainz L.C., Drane W.E., Quisling R.G., Ben-David K., Hamed L.M. Central nervous system structure and function in Sturge-Weber syndrome: evidence of neruologic and radiologic progression. J Child Neurol 1998, 13:606-618.
49. Shirley MD, Tang H., Gallione C.J., Baugher J.D., Frelin L.P., Cohen B., et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013, 368:1971-1979.
50. Van Raamsdonk C.D., Fitch K.R., Fuchs H., de Angelis M.H., Barsh G.S. Effects of G-protein mutations on skin color. Nat Genet 2004, 36:961-968.
51. Kurek K.C., Luks V.L., Ayturk U.M., Alomari A.I., Fishman S.J., Spencer S.A., et al. Somatic mosaic activating mutations in PIK3CA Cause CLOVES syndrome. Am J Hum Genet 2012, 90:1108-1115.
52. Bader A.G.A., Kang S.S., Vogt P.K.P. Cancer-specific mutations in PIK3CA are oncogenic in vivo. Proc Natl Acad Sci U S A 2006, 103:1475-1479.
53. Chiu R.W.K., Chan K.C.A., Gao Y., Lau V.Y.M., Aheng W., Leung T.Y., et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal serum. Proc Natl Acad Sci U S A 2008, 105:20458-20463.
54. Owens B. Genomics: the single life. Nature 2012, 491:27-29.
55. Nagata N., Yamanaka S. Perspectives for induced pluripotent stem cell technology: new insights into human physiology involved in somatic mosaicism. Circ Res 2014, 10.1161/DIRCRESAHA.114.303043.
56. Vijg J. Somatic mutations, genome mosaicism, cancer and aging. Curr Opin Genetics Dev 2014, 26. 10.1016/j.gde.2014.04.002.