Talk:2011 Group Project 9

Group 9: User:z3331469 | User:z3331556 | User:z3332178 | User:z3332183

Plagiarism

--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

“The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment” by Colleen A. Morris The review article concludes that a person with William syndrome share distinct cognitive and behavioural features. The phenotype of a typical patient will be due to the deleted genes of chromosome 7 q11.23.[1]

“Impaired geometric reorientation caused by genetic defect” by Laura Lakusta, Banchiamlack Dessalegn, and Barbara Landau By testing participants in a plain or single blue walled chamber, the study was able to show that William syndrome patients show a failure to reconstruct and use geometric representations of the chamber o find hidden objecs.[2] --z3332178 22:42, 9 August 2011 (EST)

http://omim.org/entry/194050 --z3331469 13:19, 4 August 2011 (EST)

The genomic basis of the Williams - Beuren syndrome C Schubert. Cellular and Molecular Life Sciences. Basel: Apr 2009. Vol. 66, Iss. 7; p. 1178 [3]

--Z3332183 13:28, 4 August 2011 (EST)

J Hum Genet. 2009 Apr;54(4):193-8. Epub 2009 Mar 13. William's syndrome: gene expression is related to parental origin and regional coordinate control. Collette JC, Chen XN, Mills DL, Galaburda AM, Reiss AL, Bellugi U, Korenberg JR. Source

Division of Neurogenetics, Cedars-Sinai Medical Center and Departments of Human Genetics and Pediatrics, UCLA, Los Angeles, CA, USA.

Abstract

William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB 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.

PMID:19282872[4] hey guys this is one of the articles i found but i've tried getting the whole article to read but sirius doesn't seem to have this particular volume

--z3331556 18:09, 6 August 2011 (EST)

Review Article:The genomic basis of the Williams – Beuren syndrome •Williams syndrome is a genomic disorder with symptoms including mental retardation, visuospatial impairment & overfriendliness.

•It is caused due to a hemizygous contiguous gene deletion with regards to chromosome 7q11.23.

•This review article deals with the genomic assembly of the region involved in Williams syndrome as well as the chromosomal mechanisms such as deletions and duplications and the consequences of these.

Reference: Schubert, C. The genomic basis of the Williams – Beuren syndrome. Cell, Mol. Life Sci. 66:1178-1197, 2009 [5]

Research Article: Functional, structural and metabolic abnormalities of the hippocampl formation in Williams syndrome •In this study, neuroimaging (PET and fMRI) was used to investigate the hippocampal structure, function and metabolic integrity of 12 people with Williams syndrome compared to 12 healthy controls.

•N-acetul aspartate can be seen as a marker for synaptic activity and measures of this were reduced in those with Williams syndrome

•Although regular hippocampal size was maintained in both groups, slight changes in the shape were present.

•Through the results of the investigation, it was suggested that the neurocognitive abnormalities seen in Williams syndrome may be partly due to hippocampal dysfunction.

Reference: Meyer-Lindenberg A., et al. Functional, structural and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 115(7):1888-95, 2005 [6]

--z3332183 23:02, 9 August 2011 (EST)

ARTICLE PLoS One. 2010 Apr 21;5(4):e10292. Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR. Source

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.

Abstract Although genetics is the most significant known determinant of human intelligence, specific gene contributions remain largely unknown. To accelerate understanding in this area, we have taken a new approach by studying the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23. We find that variation in the transcript levels of the brain gene STX1A correlates significantly with intelligence in WS patients measured by principal component analysis (PCA) of standardized WAIS-R subtests, r = 0.40 (Pearson correlation, Bonferroni corrected p-value = 0.007), accounting for 15.6% of the cognitive variation. These results suggest that syntaxin 1A, a neuronal regulator of presynaptic vesicle release, may play a role in WS and be a component of the cellular pathway determining human intelligence.

PMID:20422020 [7]

Williams Syndrome presents with a distinct pattern of intellectual disabilities that differ from normal on subtests of the WAIS-R (Wechsler Adult Intelligence Scale-Revised). Found that relative to their overall performance, WS subjects tended to do well in tests of vocabulary (Vocabulary) and abstract reasoning (Similarities, Picture Arrangement), and poorly in tests of numeracy (Arithmetic), visual-spatial (Digit Symbol, Block Design, Object Assembly), and memory (Digit Span)

Gene expression in the tissue of interest (brain) is not possible so quantitated gene expression in lymphoblastoid (LB) cell lines

STX1A is best known as an important component of the presynaptic SNARE complex involved in priming of synaptic vesicles for release.

Data indicate that peripheral STX1A expression levels measured in lymphoblastoid cell lines strictly grown, is related to an emergent property of the CNS, intelligence.

here's the actual article [8]

REVIEW ARTICLE

Arch Pediatr. 2009 Mar;16(3):273-82. Epub 2008 Dec 18. [Williams-Beuren syndrome: a multidisciplinary approach]. [Article in French] Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B. Source

Laboratoire langage, mémoire et développement cognitif, CNRS, UMR 6215, 99, avenue du Recteur-Pineau, 86000 Poitiers, France. agnes.lacroix@uhb.fr

Abstract Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extracellular matrix. Developmental disorders usually associate an atypical face, cardiovascular malformations (most often supravalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociability. Other less known or rarer features, such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) the different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of an opposite syndrome stemming from a microduplication of the 7q11.23 locus, (ii) the clinical features in children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning.

PMID:19097873 [9]

--Karla Jerez 19:37, 10 August 2011 (EST)