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Annual Report 2011 - Center for Advanced Biotechnology and ...

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Publications:<br />

Figure 1. A) Luc assays demonstrate 50% increase in A-C haplotype<br />

after 1 day in vitro (left), <strong>and</strong> ~250% increase after 3 days in vitro in P6<br />

mouse granule cells (right). B) Luc assays demonstrate that a 200bp<br />

fragment encompassing both SNPs is sufficient <strong>for</strong> activator function<br />

(left), while analysis of the rare haplotypes (A-T <strong>and</strong> G-C) determined<br />

that both associated alleles are necessary (right) <strong>for</strong> function. C)<br />

EMSAs with P6 mouse granule cell nuclear extract demonstrate<br />

nuclear factors (arrow) bind better to A-C than G-T haplotype. D)<br />

Knockdown of both Cux1 <strong>and</strong> NfIB demonstrate that both factors are<br />

required <strong>for</strong> endogenous EN2 expression in HEK-293T cells (n=3).<br />

Choi J, Matteson PG, Millonig JH. <strong>2011</strong> Cut-like homeobox1 <strong>and</strong> Nuclear factor I/B<br />

mediate ENGRAILED2 Autism Spectrum Disorder-associated haplotype function. Human<br />

Molecular Genetics. EPub 12/12/11<br />

Choi J, Kamdar S, Rahman T, Matteson PG, Millonig JH. (<strong>2011</strong>). ENGRAILED 2 (EN2)<br />

genetic <strong>and</strong> functional analysis. Autism Spectrum Disorders - From Genes to Environment,<br />

edited by<br />

Tim Williams<br />

Deng Q, Andersson E, Hedlund E, Alekseenko Z, Coppola E, Panman L, Millonig JH,<br />

Brunet J-F, Ericson J. Specific <strong>and</strong> Integrated Roles of Lmx1a, Lmx1b <strong>and</strong> Phox2a in<br />

Ventral Midbrain. Development <strong>2011</strong> 138:3399-408<br />

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