X-linked imprinting: Effects on brain and behaviour

BioEssays

Volumn 28, Issue 1, 2006, Pages 35-44

  Davies, William ^a   Isles, Anthony R ^a,b   Burgoyne, Paul S ^c   Wilkinson, Lawrence S ^a  

^a BABRAHAM INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AUTOSOME; BEHAVIOR; BIOINFORMATICS; BRAIN DEVELOPMENT; BRAIN FUNCTION; COGNITION; DNA RECOMBINATION; GENE EXPRESSION; GENETIC LINKAGE; GENOME IMPRINTING; HUMAN; INHERITANCE; KARYOTYPE; LONG TERM MEMORY; NERVE CELL DIFFERENTIATION; NEUROBIOLOGY; NONHUMAN; ORTHOLOGY; PHENOTYPE; PROGENY; REVIEW; SEX DIFFERENCE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE; XLR GENE;

ANIMALS; BEHAVIOR; BRAIN; EVOLUTION; GENOMIC IMPRINTING; HUMANS; MODELS, GENETIC; X CHROMOSOME;

EID: 33645243024     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.20341     Document Type: Review

References (82)

1. Reik W, Walter J. 2001. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2:21-32.
2. Kato Y, Sasaki H. 2005. Imprinting and looping: epigenetic marks control interactions between regulatory elements. Bioessays 27:1-4.
3. Delaval K, Feil R. 2004. Epigenetic regulation of mammalian genomic imprinting. Curr Opin Genet Dev 14:188-195.
4. Verona RI, Mann MR, Bartolomei MS. 2003. Genomic imprinting: intricacies of epigenetic regulation in clusters. Annu Rev Cell Dev Biol 19:237-259.
5. Haig D. 2000. The Kinship Theory of Genomic Imprinting. Annual Review of Ecology and Systematics 31:9-32.
6. Weinhausel A, Haas OA. 2001. Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR. Hum Genet 108:450-458.
7. Davies W, Isles AR, Wilkinson LS. 2005. Imprinted gene expression in the brain. Neurosci Biobehav Rev 29:421-430.
8. Isles AR, Wilkinson LS. 2000. Imprinted genes, cognition and behaviour. Trends Cogn Sci 4:309-318.
9. Davies W, Isles AR, Wilkinson LS. 2001. Imprinted genes and mental dysfunction. Ann Med 33:428-436.
10. Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, et al. 2001. A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet 17:697-701.
11. Takagi N, Sasaki M. 1975. Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. Nature 256:640-642.
12. Li Y, Behringer RR. 1998. Esx1 is an X-chromosome-imprinted regulator of placental development and fetal growth. Nat Genet 20:309-311.
13. Heard E. 2004. Recent advances in X-chromosome inactivation. Curr Opin Cell Biol 16:247-255.
14. Migeon BR, Chowdhury AK, Dunston JA, McIntosh I. 2001. Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation. Am J Hum Genet 69:951-960.
15. Huynh KD, Lee JT. 2003. Inheritance of a pre-inactivated paternal X chromosome in early mouse embryos. Nature 426:857-862.
16. Beamer WG, Shultz KL, Tennent BJ, Nadeau JH, Churchill GA, et al. 1998. Multigenic and imprinting control of ovarian granulosa cell tumorigenesis in mice. Cancer Res 58:3694-3699.
17. Davis GH, Dodds KG, Wheeler R, Jay NP. 2001. Evidence that an imprinted gene on the X chromosome increases ovulation rate in sheep. Biol Reprod 64:216-221.
18. Naumova AK, Leppert M, Barker DF, Morgan K, Sapienza C. 1998. Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome. Am J Hum Genet 62: 1493-1499.
19. Cavaille J, Buiting K, Kiefmann M, Lalande M, Brannan CI, et al. 2000. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci USA 97:14311-14316.
20. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, et al. 2005. The DNA sequence of the human X chromosome. Nature 434:325-337.
21. Vallender EJ, Pearson NM, Lahn BT. 2005. The X chromosome: not just her brother's keeper. Nat Genet 37:343-345.
22. Carrel L, Willard HF. 2005. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404.
23. Xu J, Burgoyne PS, Arnold AP. 2002. Sex differences in sex chromosome gene expression in mouse brain. Hum Mol Genet 11:1409-1419.
24. Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, et al. 1997. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705-708.
25. Abdi Z, Sharma T. 2004. Social cognition and its neural correlates in schizophrenia and autism. CNS Spectr 9:335-343.
26. Skuse DH. 2000. Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediatr Res 47:9-16.
27. Green R, Keverne EB. 2000. The disparate maternal aunt-uncle ratio in male transsexuals: an explanation invoking genomic imprinting. J Theor Biol 202:55-63.
28. Bishop DV, Canning E, Elgar K, Morris E, Jacobs PA, et al. 2000. Distinctive patterns of memory function in subgroups of females with Turner syndrome: evidence for imprinted loci on the X-chromosome affecting neurodevelopment. Neuropsychologia 38:712-721.
29. Tamm L, Menon V, Reiss AL. 2003. Abnormal prefrontal cortex function during response inhibition in Turner syndrome: functional magnetic resonance imaging evidence. Biol Psychiatry 53:107-111.
30. Kesler SR, Blasey CM, Brown WE, Yankowitz J, Zeng SM, et al. 2003. Effects of X-monosomy and X-linked imprinting on superior temporal gyrus morphology in Turner syndrome. Biol Psychiatry 54:636-646.
31. Cutter WJ, Robertson DMW, Daly EM, Chitnis XA, van Amselvoort TAMJ, et al. 2005. Influence of X chromosome and hormones on human brain development-an MRI and 1H MRS study of Turner syndrome. Biological Psychiatry (in press).
32. Good CD, Lawrence K, Thomas NS, Price CJ, Ashburner J, et al. 2003. Dosage-sensitive X-linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans. Brain 126:2431-2446.
33. Kesler SR, Garrett A, Bender B, Yankowitz J, Zeng SM, et al. 2004. Amygdala and hippocampal volumes in Turner syndrome: a high-resolution MRI study of X-monosomy. Neuropsychologia 42:1971-1978.
34. van Pareren YK, Duivenvoorden HJ, Slijper FM, Koot HM, Drop SL, et al. 2005. Psychosocial Functioning after Discontinuation of Long-Term Growth Hormone Treatment in Girls with Turner Syndrome. Horm Res 63:238-244.
35. Henn W, Zang KD. 1997. Mosaicism in Turner's syndrome. Nature 390:569.
36. Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, et al. 2005. Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Am J Med Genet A 135:150-154.
37. Schinzel AA, Robinson WP, Binkert F, Torresani T, Werder EA. 1993. Exclusively paternal X chromosomes in a girl with short stature. Hum Genet 92:175-178.
38. Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, et al. 1997. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 60:160-165.
39. Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, et al. 2004. Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes. Horm Res 61:205-210.
40. Greally JM. 2002. Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome. Proc Natl Acad Sci USA 99:327-332.
41. Bocchetta A, Piccardi MP, Martinelli V, Quesada G, Del Zompo M. 1999. Maternal inheritance of manic depression in hemizygotes for the G6PD-Mediterranean mutation. Indirect evidence for Xq28 transmission in Sardinia. Psychiatr Genet 9:63-68.
42. Evans EP, Phillips RJ. 1975. Inversion heterozygosity and the origin of XO daughters of Bpa/+female mice. Nature 256:40-41.
43. Burgoyne PS, Evans EP. 2000. A high frequency of XO offspring from X(Paf)Y* male mice: evidence that the Paf mutation involves an inversion spanning the X PAR boundary. Cytogenet Cell Genet 91:57-61.
44. Davies W, Isles A, Smith R, Karunadasa D, Burrmann D, et al. 2005. Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice. Nat Genet 37:625-629.
45. Raefski AS, O'Neill MJ. 2005. Identification of a cluster of X-linked imprinted genes in mice. Nat Genet 37:620-624.
46. Nikaido I, Saito C, Mizuno Y, Meguro M, Bono H, et al. 2003. Discovery of imprinted transcripts in the mouse transcriptome using large-scale expression profiling. Genome Res 13:1402-1409.
47. Smith RJ, Kelsey G. 2001. Identification of Imprinted Loci by Methylation: Use of Methylation-Sensitive Representational Difference Analysis (Me-RDA). Methods Mol Biol 181:113-132.
48. Hanlon SE, Lieb JD. 2004. Progress and challenges in profiling the dynamics of chromatin and transcription factor binding with DNA microarrays. Curr Opin Genet Dev 14:697-705.
49. Bergsagel PL, Timblin CR, Kozak CA, Kuehl WM. 1994. Sequence and expression of murine cDNAs encoding Xlr3a and Xlr3b, defining a new X-linked lymphocyte-regulated Xlr gene subfamily. Gene 150:345-350.
50. Maeda T, Chijiiwa Y, Tsuji H, Sakoda S, Tani K, et al. 2004. Somatic DNA recombination yielding circular DNA and deletion of a genomic region in embryonic brain. Biochem Biophys Res Commun 319:1117-1123.
51. Sun Y, Xu J, Barbarese E, Carson JH. 1997. Rearrangement and reactivation of the Myelin Basic Protein Locus in Myelin-Deficient (mid) mouse brain. J Neurochem 68:457-468.
52. Pena de Ortiz S, Arshavsky Y. 2001. DNA recombination as a possible mechanism in declarative memory: a hypothesis. Journal of Neuroscience Research 63:72-81.
53. Lunyak VV, Prefontaine GG, Rosenfeld MG. 2004. REST and peace for the neuronal-specific transcriptional program. Ann N Y Acad Sci 1014: 110-120.
54. Escalier D, Allenet B, Badrichani A, Garchon HJ. 1999. High level expression of the Xlr nuclear protein in immature thymocytes and colocalization with the matrix-associated region-binding SATB1 protein. J Immunol 162:292-298.
55. Yagi T. 2003. Diversity of the cadherin-related neuronal receptor/protocadherin family and possible DNA rearrangement in the brain. Genes Cells 8:1-8.
56. Frank M, Kemler R. 2002. Protocadherins. Curr Opin Cell Biol 14:557-562.
57. Bjarnadottir TK, Fredriksson R, Hoglund PJ, Gloriam DE, Lagerstrom MC, et al. 2004. The human and mouse repertoire of the adhesion family of G-protein-coupled receptors. Genomics 84:23-33.
58. Eckhardt BL, Parker BS, van Laar RK, Restall CM, Natoli AL, et al. 2005. Genomic analysis of a spontaneous model of breast cancer metastasis to bone reveals a role for the extracellular matrix. Mol Cancer Res 3: 1-13.
59. Keverne EB, Fundele R, Narasimha M, Barton SC, Surani MA. 1996. Genomic imprinting and the differential roles of parental genomes in brain development. Brain Res Dev Brain Res 92:91-100.
60. Martinez-Garay I, Jablonka S, Sutajova M, Steuernagel P, Gal A, et al. 2002. A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region. Genomics 80:259-267.
61. Thomas NS, Sharp AJ, Browne CE, Skuse D, Hardie C, et al. 1999. Xp deletions associated with autism in three females. Hum Genet 104:43-48.
62. Milunsky J, Huang XL, Wyandt HE, Milunsky A. 1999. Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet 55:455-460.
63. Crider A. 1997. Perseveration in schizophrenia. Schizophr Bull 23: 63-74.
64. Hill EL, Frith U. 2003. Understanding autism: insights from mind and brain. Philos Trans R Soc Lond B Biol Sci 358:281-289.
65. Tan SS, Faulkner-Jones B, Breen SJ, Walsh M, Bertram JF, et al. 1995. Cell dispersion patterns in different cortical regions studied with an X-inactivated transgenic marker. Development 121:1029-1039.
66. Lee JT. 2003. Molecular links between X-inactivation and autosomal imprinting: X-inactivation as a driving force for the evolution of imprinting? Curr Biol 13:R242-R254.
67. Escalier D, Eloy L, Garchon HJ. 2002. Sex-specific gene expression during meiotic prophase I: Xlr (X linked, lymphocyte regulated), not its male homologue Xmr (Xlr related, meiosis regulated), is expressed in mouse oocytes. Biol Reprod 67:1646-1652.
68. Escalier D, Garchon HJ. 2000. XMR is associated with the asynapsed segments of sex chromosomes in the XY body of mouse primary spermatocytes. Chromosoma 109:259-265.
69. Kayashima T, Ohta T, Niikawa N, Kishino T. 2003. On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: strain-background-dependent imprinting? J Hum Genet 48:492-493.
70. Naumova AK, Croteau S. 2004. Mechanisms of epigenetic variation: polymorphic imprinting. Current Genomics 5:417-429.
71. Heard E, Clerc P, Avner P. 1997. X-chromosome inactivation in mammals. Annu Rev Genet 31:571-610.
72. Morison IM, Ramsay JP, Spencer HG. 2005. A census of mammalian imprinting. Trends Genet 21:457-465.
73. Orr HA. 1995. Somatic mutation favors the evolution of diploidy. Genetics 139:1441-1447.
74. Moore T, Haig D. 1991. Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet 7:45-49.
75. Haig D. 2004. Genomic imprinting and kinship: how good is the evidence? Annu Rev Genet 38:553-585.
76. Smith K, Alberts SC, Altmann J. 2003. Wild female baboons bias their social behaviour towards paternal half-sisters. Proc Biol Sci 270:503-510.
77. Widdig A, Nurnberg P, Krawczak M, Streich WJ, Bercovitch FB. 2001. Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques. Proc Natl Acad Sci USA 98: 13769-13773.
78. Bierman KL, Welsh JA. 2000. Assessing social dysfunction: the contributions of laboratory and performance-based measures. J Clin Child Psychol 29:526-539.
79. Iwasa Y, Pomiankowski A. 2001. The evolution of X-linked genomic imprinting. Genetics 158:1801-1809.
80. Dewing P, Shi T, Horvath S, Vilain E. 2003. Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. Brain Res Mol Brain Res 118:82-90.
81. Arnold AP, Burgoyne PS. 2004. Are XX and XY brain cells intrinsically different? Trends Endocrinol Metab 15:6-11.
82. De Vries GJ. 2004. Minireview: Sex differences in adult and developing brains: compensation, compensation, compensation. Endocrinology 145:1063-1068.