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William’s syndrome: gene expression is related to parental origin and regional coordinate control

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William’s syndrome: gene expression is related to parental origin and regional coordinate control. / Collette, Jeremy C; Chen, Xiao-Ning; Mills, Debra et al.
In: Journal of Human Genetics, Vol. 54, No. 4, 2009, p. 193-198.

Research output: Contribution to journal › Article › peer-review

HarvardHarvard

Collette, JC, Chen, X-N, Mills, D, Galaburda, A, Reiss, A, Bellugi, U & Korenberg, JR 2009, 'William’s syndrome: gene expression is related to parental origin and regional coordinate control', Journal of Human Genetics, vol. 54, no. 4, pp. 193-198. https://doi.org/10.1038/jhg.2009.5

APA

Collette, J. C., Chen, X.-N., Mills, D., Galaburda, A., Reiss, A., Bellugi, U., & Korenberg, J. R. (2009). William’s syndrome: gene expression is related to parental origin and regional coordinate control. Journal of Human Genetics, 54(4), 193-198. https://doi.org/10.1038/jhg.2009.5

CBE

Collette JC, Chen X-N, Mills D, Galaburda A, Reiss A, Bellugi U, Korenberg JR. 2009. William’s syndrome: gene expression is related to parental origin and regional coordinate control. Journal of Human Genetics. 54(4):193-198. https://doi.org/10.1038/jhg.2009.5

MLA

Collette, Jeremy C et al. "William’s syndrome: gene expression is related to parental origin and regional coordinate control". Journal of Human Genetics. 2009, 54(4). 193-198. https://doi.org/10.1038/jhg.2009.5

VancouverVancouver

Collette JC, Chen XN, Mills D, Galaburda A, Reiss A, Bellugi U et al. William’s syndrome: gene expression is related to parental origin and regional coordinate control. Journal of Human Genetics. 2009;54(4):193-198. doi: 10.1038/jhg.2009.5

Author

Collette, Jeremy C ; Chen, Xiao-Ning ; Mills, Debra et al. / William’s syndrome: gene expression is related to parental origin and regional coordinate control. In: Journal of Human Genetics. 2009 ; Vol. 54, No. 4. pp. 193-198.

RIS

TY - JOUR

T1 - William’s syndrome: gene expression is related to parental origin and regional coordinate control

AU - Collette, Jeremy C

AU - Chen, Xiao-Ning

AU - Mills, Debra

AU - Galaburda, Albert

AU - Reiss, Allan

AU - Bellugi, Ursula

AU - Korenberg, Julie R.

PY - 2009

Y1 - 2009

N2 - William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5MB deletion that includes about 24–28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

AB - William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5MB deletion that includes about 24–28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

U2 - 10.1038/jhg.2009.5

DO - 10.1038/jhg.2009.5

M3 - Article

VL - 54

SP - 193

EP - 198

JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

IS - 4

ER -