Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21

Human Genetics

Volumn 131, Issue 11, 2012, Pages 1751-1759

  Hui, Lisa ^a,b   Slonim, Donna K ^c,d   Wick, Heather C ^c   Johnson, Kirby L ^a   Koide, Keiko ^a   Bianchi, Diana W ^a  

^a TUFTS MEDICAL CENTER   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

^c Tufts University   (United States)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELSR2 PROTEIN; DISHEVELED ASSOCIATED ACTIVATOR OF MORPHOGENESIS 2; GLYCOPROTEIN; GLYCOPROTEIN M6A; MYOCYTE ENHANCER FACTOR 2; NEUROGENIC DIFFERENTIATION 2; NUCLEIC ACID BINDING PROTEIN; PERIPHERIN 2; PROTEIN; PROTEIN TYROSINE PHOSPHATASE RECETOPR TYPE 2; SINE OCULIS BINDING PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX11; TRANSCRIPTOME; UNCLASSIFIED DRUG;

AMNION FLUID; ANEUPLOIDY; ARTICLE; BIOINFORMATICS; BRAIN CORTEX; BRAIN DEVELOPMENT; CARDIOVASCULAR DISEASE; CHROMOSOME 21; CLINICAL ARTICLE; CONNECTIVE TISSUE DISEASE; DOWN SYNDROME; FEMALE; FETUS; GENE EXPRESSION; GENITAL SYSTEM DISEASE; HUMAN; INFECTION; MALE; NERVE CELL DIFFERENTIATION; NERVE CELL GROWTH; NERVE DEGENERATION; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY TRACT DISEASE; SENSORY NERVE CELL; SUPERNATANT; TRISOMY 18; TRISOMY 21;

AMNIOTIC FLUID; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 18; DEVELOPMENTAL DISABILITIES; DOWN SYNDROME; FEMALE; FETUS; GENE EXPRESSION PROFILING; HUMANS; META-ANALYSIS AS TOPIC; NEURONAL PLASTICITY; PREGNANCY; PREGNANCY COMPLICATIONS; TRISOMY;

EID: 84867573496     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-012-1195-x     Document Type: Article

References (28)

1. Altug-Teber O, Bonin M, Walter M, Mau-Holzmann UA, Dufke A, Stappert H, Tekesin I, Heilbronner H, Nieselt K, Riess O (2007) Specific transcriptional changes in human fetuses with autosomal trisomies. Cytogenet Genome Res 119(3-4):171-184 (Pubitemid 351235048)
2. Bergsland M, Werme M, Malewicz M, Perlmann T, Muhr J (2006) The establishment of neuronal properties is controlled by Sox4 and Sox11. Gene Dev 20(24):3475-3486 (Pubitemid 44969164)
3. Bianchi DW, Crombleholme TM, D'Alton ME, Malone FD (2010) Fetology, 2nd edn. McGraw-Hill Companies, Inc, USA, pp 910-925
4. Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L (2010) SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. Am J Hum Genet 87(5):694-700
5. Bolstad BM (2004) Low level analysis of high-density oligonucleotide array data: background, normalization and summarization. University of California, Berkeley
6. Boon K, Osorio EC, Greenhut SF, Schaefer CF, Shoemaker J, Polyak K, Morin PJ, Buetow KH, Strausberg RL, De Souza SJ, Riggins GJ (2002) An anatomy of normal and malignant gene expression. Proc Natl Acad Sci USA 99(17):11287-11292 (Pubitemid 34920918)
7. Chen Z, Montcouquiol M, Calderon R, Jenkins NA, Copeland NG, Kelley MW, Noben-Trauth K (2008) Jxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of corti. J Neurosci 28(26):6633-6641
8. Chou CY, Liu LY, Chen CY, Tsai CH, Hwa HL, Chang LY, Lin YS, Hsieh FJ (2008) Gene expression variation increase in trisomy 21 tissues. Mamm Genome 19(6):398-405
9. Chung IH, Lee SH, Lee KW, Park SH, Cha KY, Kim NS, Yoo HS, Kim YS, Lee S (2005) Gene expression analysis of cultured amniotic fluid cell with Down syndrome by DNA microarray. J Korean Med Sci 20(1):82-87 (Pubitemid 40342212)
10. Consortium U (2011) Ongoing and future developments at the Universal Protein Resource. Nucleic Acids Res 39((Database issue)):D214-D219
11. Dennis G Jr, Sherman BT, Hosack DA, Yang J, Gao W, Lane HC, Lempicki RA (2003) DAVID: database for annotation, visualization, and integrated discovery. Genome Biol 4(5):P3
12. Franklin A, Kao A, Tapscott S, Unis A (2001) NeuroD homologue expression during cortical development in the human brain. J Child Neurol 16(11):849-853 (Pubitemid 33150422)
13. Gentleman RC, Carey VJ, Bates DM, Bolstad B, Dettling M, Dudoit S, Ellis B, Gautier L, Ge Y, Gentry J, Hornik K, Hothorn T, Huber W, Iacus S, Irizarry R, Leisch F, Li C, Maechler M, Rossini AJ, Sawitzki G, Smith C, Smyth G, Tierney L, Yang JY, Zhang J (2004) Bioconductor: open software development for computational biology and bioinformatics. Genome Biol 5(10):R80
14. Hosack DA, Dennis G Jr, Sherman BT, Lane HC, Lempicki RA (2003) Identifying biological themes within lists of genes with EASE. Genome Biol 4(10):R70
15. Hui L, Bianchi DW (2011) Cell-free fetal nucleic acids in amniotic fluid. Hum Reprod Update 17(3):362-371
16. Hui L, Slonim DK, Wick HC, Johnson KL, Bianchi DW (2012) The amniotic fluid transcriptome: a source of novel information about human fetal development. Obstet Gynecol 119(1):111-118
17. Kida Y, Shiraishi T, Ogura T (2004) Identification of chick and mouse Daam1 and Daam2 genes and their expression patterns in the central nervous system. Brain Res Dev Brain Res 153(1):143-150 (Pubitemid 39298887)
18. Kislinger T, Cox B, Kannan A, Chung C, Hu P, Ignatchenko A, Scott MS, Gramolini AO, Morris Q, Hallett MT, Rossant J, Hughes TR, Frey B, Emili A (2006) Global survey of organ and organelle protein expression in mouse: combined proteomic and transcriptomic profiling. Cell 125(1):173-186
19. Koide K, Slonim DK, Johnson KL, Tantravahi U, Cowan JM, Bianchi DW (2011) Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18. Hum Genet 129(3):295-305
20. Larrabee PB, Johnson KL, Lai C, Ordovas J, Cowan JM, Tantravahi U, Bianchi DW (2005) Global gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluid. JAMA 293(7):836-842 (Pubitemid 40250367)
21. Lin L, Lee VM, Wang Y, Lin JS, Sock E, Wegner M, Lei L (2011) Sox11 regulates survival and axonal growth of embryonic sensory neurons. Dev Dyn 240(1):52-64
22. Mattar P, Langevin LM, Markham K, Klenin N, Shivji S, Zinyk D, Schuurmans C (2008) Basic helix-loop-helix transcription factors cooperate to specify a cortical projection neuron identity. Mol Cell Biol 28(5):1456-1469
23. Michibata H, Okuno T, Konishi N, Kyono K, Wakimoto K, Aoki K, Kondo Y, Takata K, Kitamura Y, Taniguchi T (2009) Human GPM6A is associated with differentiation and neuronal migration of neurons derived from human embryonic stem cells. Stem Cells & Dev 18(4):629-639
24. Ravanpay AC, Hansen SJ, Olson JM (2010) Transcriptional inhibition of REST by NeuroD2 during neuronal differentiation. Mol Cell Neurosci 44(2):178-189
25. Slonim DK, Koide K, Johnson KL, Tantravahi U, Cowan JM, Jarrah Z, Bianchi DW (2009) Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses. Proc Natl Acad Sci USA 106(23):9425-9429
26. Su AI, Wiltshire T, Batalov S, Lapp H, Ching KA, Block D, Zhang J, Soden R, Hayakawa M, Kreiman G, Cooke MP, Walker JR, Hogenesch JB (2004) A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci USA 101(16):6062-6067 (Pubitemid 38520528)
27. Vilardell M, Rasche A, Thormann A, Maschke-Dutz E, Perez-Jurado LA, Lehrach H, Herwig R (2011) Meta-analysis of heterogeneous Down syndrome data reveals consistent genome-wide dosage effects related to neurological processes. BMC Genomics 12:229
28. Woo J-M, Park SJ, Kang HI, Kim BG, Shim SB, Jee SW, Lee SH, Sin JS, Bae CJ, Jang MK, Cho C, Hwang DY, Kim CK (2010) Characterization of changes in global gene expression in the brain of neuron-specific enolase/human Tau23 transgenic mice in response to overexpression of Tau protein. Int J Mol Med 25(5):667-675