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Abstracts » Biological sciences

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Article Abstract:

A de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and Contactin Associated Protein-Like 2 (CNTNAP2) in a child with congitive and social delay is identified. It is suggested that rare variants contribute to the pathophysiology of autism spectrum disorders (ASD).

Author: Klin, Ami, Lifton, Richard P., Morgan, Thomas M., Geshwind, Daniel H., Abrahams, Brett S., Bakkaloglu, Betul, O'Roak, Brian J., Louvi, Angeliki, Gupta, Abha R., Abelson, Jesse F., Chawarska, Katarzyna, Ercan-Sencicek, A. Gulhan, Stillman, Althea A., Tanriover, Gamze, Duvall, Jackie A., Robbins, Elissa M., Biederer, Thomas, Gunel, Murat, State, Matthew W.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Amino acid sequence, Amino acid sequencing, Autistic children, Human cytogenetics

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Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain

Article Abstract:

FOXP2, the transcriptional factor genes in human brain is identified using chromatin immunoprecipitation followed by microarray analysis (ChIP-chip). The FOXP2-target genes give insights on the vital functions and pathways to explore the genetic basis of human speech and language.

Author: Fisher, Simon E., Ren, Bing, Spiteri, Elizabeth, Konopka, Genevieve, Coppola, Giovanni, Bomar, Jamee, Oldham, Michael, Jing Ou, Vernes, Sonja C., Geshwind, Daniel H.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Speech, Brain research, Genetic transcription, Transcription (Genetics), Cognition

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High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders

Article Abstract:

The article examines direct targets regulated by FOXP2 in neurons by high-throughput screening of microarrays. FOXP2 activates or represses gene expression at occupied promoters and helps in neural processes involved in speech and language.

Author: Fisher, Simon E., Spiteri, Elizabeth, Vernes, Sonja C., Nicod, Jerome, Groszer, Matthias, Taylor, Jennifer M., Davies, Kay E., Geschwind, Daniel H.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Usage, Polymerase chain reaction, Gene expression, Mutation (Biology), Mutation, Speech disorders

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Subjects list: Research, Genetic aspects
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