Coverart for item
The Resource A missense mutation in Atf2 in standard poodles with fatal neonatal encephalopathy, by Xuhua Chen, (electronic resource)

A missense mutation in Atf2 in standard poodles with fatal neonatal encephalopathy, by Xuhua Chen, (electronic resource)

Label
A missense mutation in Atf2 in standard poodles with fatal neonatal encephalopathy
Title
A missense mutation in Atf2 in standard poodles with fatal neonatal encephalopathy
Statement of responsibility
by Xuhua Chen
Creator
Contributor
Thesis advisor
Subject
Genre
Language
eng
Summary
Neonatal encephalopathy with seizures (NEWS) is a previously undescribed autosomal recessive disease in Standard Poodles. Affected puppies are small and weak at birth. Many died in their first week of life and surviving puppies developed ataxia, a wholebody tremor and, by 4-to-6 weeks of age, severe generalized clonic-tonic seizures. None have survived past six weeks of age. Cerebella from affected puppies were reduced in size and often contained dysplastic foci consisting of clusters of intermixed granule and Purkinje neurons. A panel of 304 microsatellite markers was used to genotype DNA from a 78-member Standard Poodle family containing 20 affected puppies. Linkage analysis localized the disease locus to an 8.7 Mb segment of CFA36 between markers REN179H15 and REN252E18 with LOD scores exceeding 7.0. Fine mapping with 11 additional markers restricted the target region to a 2.87 Mb chromosomal segment containing 26 genes including LOC478806, the canine ortholog of human ATF2. This gene encodes activating transcription factor 2 (ATF-2) which participates in the cellular responses to a wide variety of physiologic and pathologic stimuli and is required for the normal development and function of the central nervous system. All coding regions of the ATF2 gene from a NEWS-affected puppy were amplified and sequenced revealing a T->G transversion that predicts a methionine-to-arginine missense mutation at amino acid position 51. Methionine-51 is part of a hydrophobic docking site for the mitogenactivated protein kinases that activate ATF-2. Thus, substitution of an arginine at position 51 is expected to interfere with ATF-2 activation. The mutant allele co-segregated with the disease in the Standard Poodle family: all 20 NEWS-affected puppies in this family were homozygous for the mutant G allele. The 58 clinically normal family members were either G/T heterozygotes or homozygous for the ancestral T allele. One hundred eighteen phenotypically normal representatives of other breeds were all homozygous for the ancestral T allele. There are no previous reports of spontaneous ATF2 in people or animals; however, atf2-knockout mice have cerebellar lesions that are similar to those in the puppies with NEWS. A pyrosequencing-based DNA test is being used as the basis of a program to eradicate this neonatal encephalopathy in Standard Poodles by selective breeding
Cataloging source
MMU
http://library.link/vocab/creatorName
Chen, Xuhua
Degree
M.S.
Dissertation year
2007.
Granting institution
University of Missouri-Columbia
Illustrations
illustrations
Index
no index present
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
  • theses
http://library.link/vocab/relatedWorkOrContributorName
Johnson, Gary S.
http://library.link/vocab/subjectName
  • Dogs
  • Dogs
  • Standard poodle
  • Cerebellum
  • Transcription factors
  • Genetics
Target audience
specialized
Label
A missense mutation in Atf2 in standard poodles with fatal neonatal encephalopathy, by Xuhua Chen, (electronic resource)
Instantiates
Publication
Note
  • "May 2007"
  • The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file
  • Vita
Bibliography note
Includes bibliographical references
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
txt
Content type MARC source
rdacontent
Control code
163612947
Dimensions
unknown
Form of item
electronic
Governing access note
Access is limited to the campuses of the University of Missouri
Media category
computer
Media MARC source
rdamedia
Media type code
c
Specific material designation
remote
System control number
(OCoLC)163612947
System details
Mode of access: World Wide Web
Label
A missense mutation in Atf2 in standard poodles with fatal neonatal encephalopathy, by Xuhua Chen, (electronic resource)
Publication
Note
  • "May 2007"
  • The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file
  • Vita
Bibliography note
Includes bibliographical references
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
multicolored
Content category
text
Content type code
txt
Content type MARC source
rdacontent
Control code
163612947
Dimensions
unknown
Form of item
electronic
Governing access note
Access is limited to the campuses of the University of Missouri
Media category
computer
Media MARC source
rdamedia
Media type code
c
Specific material designation
remote
System control number
(OCoLC)163612947
System details
Mode of access: World Wide Web

Library Locations

    • Ellis LibraryBorrow it
      1020 Lowry Street, Columbia, MO, 65201, US
      38.944491 -92.326012
Processing Feedback ...