Loydie A. Jerome-Majewska, LAJM, PhD

Primary Axis: 
Human Reproduction and Development
Email: 
Email contact form
Research Focus: 

We use the mouse model study the genetic and cellular basis of placental development. The placenta is essential for delivery of oxygen and nutrients to the growing fetus and derangements of placental development are catastrophic for the embryo and manifest as early pregnancy loss or as fetal intrauterine growth restriction. The two research objectives in the laboratory are: 1. To identify the cellular and genetic pathways regulated by TMED2 and Csk. Using forward and reverse genetics we found that TMED2- a protein chaperone involved in vesicular transport, and CSK- a tyrosine kinase, are required for remodeling of the chorion, the precursor of the placenta. 2. To identify specific gene isoforms expressed and required for placental development. We used microarray analysis to identify developmentally important genes with placental specific isoforms. We are examining expression of the different transcripts by in situ hybrization. Isoform specific loss-of-function mutations are being generated.

Keywords: 
Placenta, protein trafficking, splicing, tyrosine kinase, embryo, chorion, allantois, labyrinth layer, gene targeting, ENU
Publications:
Pickell L, Li D, Brown K, Mikael LG, Wang XL, Wu Q, Luo L, Jerome-Majewska L, Rozen R. Methylenetetrahydrofolate reductase deficiency and low dietary folate increase embryonic delay and placental abnormalities in mice. Birth Defects Res A Clin Mol Teratol 85(6):531-41, 2009.
Revil T, Gaffney D, Dias C, Majewski J, Jerome-Majewska LA. Alternative splicing is frequent during early embryonic development in mouse. BMC Genomics 11:399, 2010 June [e-pub].
Jerome-Majewska L, Achkar T, Luo L, Lupu F, Lacy E. The trafficking protein Tmed2/p24ß1 is required for morphogenesis of the mouse embryo and placenta. Developmental Biology 341(1):154-66, 2010.
Anastasio N, Ben-Omran T, Teebi A, Ha KCH, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Mutations in SCARF2 are responsible for Van Den Ende-Gupta Syndrome. American Journal of Human Genetics 87(4):553-60, 2010.