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Elimination of INPP4A and SLC5A7 as candidate genes for congenital progressive ataxia and spastic paresis in pigs


Genini, S; Nguyen, T T; Bürgi, E; Stranzinger, G; Vögeli, P; Giuffra, E (2009). Elimination of INPP4A and SLC5A7 as candidate genes for congenital progressive ataxia and spastic paresis in pigs. Animal Genetics, 40(5):789-790.

Abstract

The gene causing congenital progressive ataxia
and spastic paresis (CPA) in Large White piglets remains
unknown. This lethal neuropathy manifests shortly after
birth, and is inherited as a single autosomal recessive allele
cosegregating with the microsatellite SW9021 on SSC3, which
approximately corresponds to position 90–110 Mb on HSA2.2
INPP4A (inositol polyphosphate-4-phosphatase, type 1) and
SLC5A7 (solute carrier family 5, choline transporter, member 7)
are attractive positional and functional candidates as they map
within this region and are also involved in diseases with similar
phenotypes.
A 1-bp deletion in INPP4A causes the weeble (wbl) mutation
in mice, a disorder characterized by severe locomotor instability
and ataxia.3 SLC5A7 encodes a transmembrane transporter in
neurons; a missense mutation in a gene of the same family in
cattle (SLC35A3) has been shown to cause complex vertebral
malformations and locomotor instability.4

Abstract

The gene causing congenital progressive ataxia
and spastic paresis (CPA) in Large White piglets remains
unknown. This lethal neuropathy manifests shortly after
birth, and is inherited as a single autosomal recessive allele
cosegregating with the microsatellite SW9021 on SSC3, which
approximately corresponds to position 90–110 Mb on HSA2.2
INPP4A (inositol polyphosphate-4-phosphatase, type 1) and
SLC5A7 (solute carrier family 5, choline transporter, member 7)
are attractive positional and functional candidates as they map
within this region and are also involved in diseases with similar
phenotypes.
A 1-bp deletion in INPP4A causes the weeble (wbl) mutation
in mice, a disorder characterized by severe locomotor instability
and ataxia.3 SLC5A7 encodes a transmembrane transporter in
neurons; a missense mutation in a gene of the same family in
cattle (SLC35A3) has been shown to cause complex vertebral
malformations and locomotor instability.4

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:05 Vetsuisse Faculty > Veterinary Clinic > Department of Farm Animals
Dewey Decimal Classification:570 Life sciences; biology
630 Agriculture
Date:2009
Deposited On:15 Feb 2010 14:31
Last Modified:05 Apr 2016 13:55
Publisher:Wiley-Blackwell
ISSN:0268-9146
Publisher DOI:https://doi.org/10.1111/j.1365-2052.2009.01889.x
PubMed ID:19397514

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