Research Mentor(s)

Galati, Nick

Description

Down syndrome is one of the most common genetic conditions in the world, with a prevalence of 1 in 700. Down syndrome is caused by an additional copy of chromosome 21. Although all individuals with Down Syndrome have an extra copy of chromosome 21, the clinical outcome of Down Syndrome varies. Why is this? One possibility is that disruption of other genes that are not on chromosome 21 also contributes to the clinical outcome. I have identified a strong genetic candidate called NPHP1 that disrupts a structure called the primary cilium—a vital signaling structure that is essential for human development. Down Syndrome on its own also causes defects to cilia. To test if NPHP1 combines with an additional copy of chromosome 21 to alter primary cilium function, I will examine where NPHP1 localizes and how NPHP1 expression alters cilia in control cells and Down Syndrome cells. I hypothesize that mutations in NPHP1, combined with an extra copy of chromosome 21, increase cilia defects in cells from Down Syndrome individuals. If NPHP1 mislocalizes in Down Syndrome cells as compared to control cells, then NPHP1 varies the clinical outcome of Down Syndrome.

Document Type

Event

Start Date

15-5-2019 9:00 AM

End Date

15-5-2019 5:00 PM

Location

Carver Gym (Bellingham, Wash.)

Department

Biology

Genre/Form

student projects, posters

Subjects – Topical (LCSH)

Down syndrome--Genetic aspects; Human chromosome 21

Type

Image

Keywords

primary cilia

Rights

Copying of this document in whole or in part is allowable only for scholarly purposes. It is understood, however, that any copying or publication of this document for commercial purposes, or for financial gain, shall not be allowed without the author’s written permission.

Language

English

Format

application/pdf

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May 15th, 9:00 AM May 15th, 5:00 PM

Unraveling genetic interactions at the primary cilium

Carver Gym (Bellingham, Wash.)

Down syndrome is one of the most common genetic conditions in the world, with a prevalence of 1 in 700. Down syndrome is caused by an additional copy of chromosome 21. Although all individuals with Down Syndrome have an extra copy of chromosome 21, the clinical outcome of Down Syndrome varies. Why is this? One possibility is that disruption of other genes that are not on chromosome 21 also contributes to the clinical outcome. I have identified a strong genetic candidate called NPHP1 that disrupts a structure called the primary cilium—a vital signaling structure that is essential for human development. Down Syndrome on its own also causes defects to cilia. To test if NPHP1 combines with an additional copy of chromosome 21 to alter primary cilium function, I will examine where NPHP1 localizes and how NPHP1 expression alters cilia in control cells and Down Syndrome cells. I hypothesize that mutations in NPHP1, combined with an extra copy of chromosome 21, increase cilia defects in cells from Down Syndrome individuals. If NPHP1 mislocalizes in Down Syndrome cells as compared to control cells, then NPHP1 varies the clinical outcome of Down Syndrome.

 

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