Isolation, sequencing, and the genomic organization of the reduced folate carrier gene in the murine system /

administration of periconceptional supplemental folic acid.

Bibliographic Details
Main Author: Greer, Kimberly Ann
Format: Thesis eBook
Language:English
Published: [Place of publication not identified] : [publisher not identified] ; 1996.
Subjects:
Online Access:Link to OAKTrust copy
Description
Summary:administration of periconceptional supplemental folic acid.
an average rate in the U.S. of 1 per 1000 live-births with
and seven introns. The gene forms at least four splicing
as an extension of exon 3a. Future studies will be initiated
being investigated. The reduced folate carrier (RFC)
between altered RFC function, folate supplementation, and the
bifida and anencephaly. Neural tube defects (NTDS) occur at
carbon transfers in critical biochemical pathways leading to
compromise DNA synthesis and cellular proliferation,
constructed. Utilizing this model system, correlations
Defective closure of the neural tube during embryogenesis
delivers 5-methyltetrahydrofolate from the folate receptors
deriving sequencing primers from the known CDNA sequence of
DNA synthesis. Alterations in the folate pathway could
end, the genetic regulation of folate internalization is
expression will be localized and a knock-out mouse
for subcloning. An approximately 1OKb positive clone was
gene in the mouse. Screening of a murine ES cell genomic
genomic sequence was derived. The gene contains eight exons
in relation to the folate binding proteins. The RFC variant
internalization, we isolated and partially sequenced the RFC
Intracellular folates are believed to be responsible for the
library produced eight positive clones; three were selected
occurrence of NTDs may be elucidated.
potentially disrupting normal developmental events. To this
rates. Several investigators have shown a marked decrease in
reduction in NTDs due to their role in facilitating single-
results in serious and common birth defects such as spina
selected ethnic groups having higher or lower prevalence
subcloned into pbluescript and has been divided into smaller
subclones. Utilizing each subc[one independently, and
the gene, followed by chromosome walking, 5.6Kb of the
the occurrence and recurrence rates of NTDs with the
the relationship between NTDs and aberrant folate
to determine the tissue specific expression of the RFC gene
to the cytoplasm of the cell. As a first step in defining
variants with alternate exons located 5'of exons 1 and 5, and
Item Description:"Major subject: Genetics".
Vita.
Physical Description:vii, 78 leaves : illustrations ; 28 cm.
Also available online.
Issued also on microfiche from Lange Micrographics.
Bibliography:Includes bibliographical references: pages 64-77.