A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice

Yan Jiao, Jian Yan, Feng Jiao, Hong Bin Yang, Leah Rae Donahue, Xinmin Li, Bruce A. Roe, John Stuart, Weikuan Gu

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Background: The long bone abnormality (lbab) mouse is a new autosomal recessive mutant characterized by overall smaller body size with proportionate dwarfing of all organs and shorter long bones. Previous linkage analysis has located the lbab mutation on chromosome 1 between the markers D1 Mit9 and D1 Mit488. Results: A genome-based positional approach was used to identify a mutation associated with lbab disease. A total of 122 genes and expressed sequence tags at the lbab region were screened for possible mutation by using genomic DNA from lbabl/lbab, lbab/+, and +/+ B6 mice and high throughput temperature gradient capillary electrophoresis. A sequence difference was identified in one of the amplicons of gene Nppc between lbab/lbab and +/+ mice. One-step reverse transcriptase polymerase chain reaction was performed to validate the difference of Nppc in different types of mice at the mRNA level. The mutation of Nppc was unique in lbab/lbab mice among multiple mouse inbred strains. The mutation of Nppc is co-segregated with lbab disease in 200 progenies produced from heterozygous lbab/+ parents. Conclusion: A single nucleotide mutation of Nppc is associated with dwarfism in lbab/lbab mice. Current genome information and technology allow us to efficiently identify single nucleotide mutations from roughly mapped disease loci. The lbab mouse is a useful model for hereditary human achondroplasia.

Original languageEnglish (US)
Article number16
JournalBMC Genetics
Volume8
DOIs
StatePublished - Apr 17 2007

Fingerprint

Nucleotides
Bone and Bones
Mutation
Bone Diseases
Achondroplasia
Genome
Dwarfism
Inbred Strains Mice
Chromosomes, Human, Pair 1
Expressed Sequence Tags
Capillary Electrophoresis
Body Size
Reverse Transcriptase Polymerase Chain Reaction
Genes
Technology
Messenger RNA
Temperature
DNA

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice. / Jiao, Yan; Yan, Jian; Jiao, Feng; Yang, Hong Bin; Donahue, Leah Rae; Li, Xinmin; Roe, Bruce A.; Stuart, John; Gu, Weikuan.

In: BMC Genetics, Vol. 8, 16, 17.04.2007.

Research output: Contribution to journalArticle

Jiao, Yan ; Yan, Jian ; Jiao, Feng ; Yang, Hong Bin ; Donahue, Leah Rae ; Li, Xinmin ; Roe, Bruce A. ; Stuart, John ; Gu, Weikuan. / A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice. In: BMC Genetics. 2007 ; Vol. 8.
@article{fb3e2cd4f23f485587a76eee90ee0cd6,
title = "A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice",
abstract = "Background: The long bone abnormality (lbab) mouse is a new autosomal recessive mutant characterized by overall smaller body size with proportionate dwarfing of all organs and shorter long bones. Previous linkage analysis has located the lbab mutation on chromosome 1 between the markers D1 Mit9 and D1 Mit488. Results: A genome-based positional approach was used to identify a mutation associated with lbab disease. A total of 122 genes and expressed sequence tags at the lbab region were screened for possible mutation by using genomic DNA from lbabl/lbab, lbab/+, and +/+ B6 mice and high throughput temperature gradient capillary electrophoresis. A sequence difference was identified in one of the amplicons of gene Nppc between lbab/lbab and +/+ mice. One-step reverse transcriptase polymerase chain reaction was performed to validate the difference of Nppc in different types of mice at the mRNA level. The mutation of Nppc was unique in lbab/lbab mice among multiple mouse inbred strains. The mutation of Nppc is co-segregated with lbab disease in 200 progenies produced from heterozygous lbab/+ parents. Conclusion: A single nucleotide mutation of Nppc is associated with dwarfism in lbab/lbab mice. Current genome information and technology allow us to efficiently identify single nucleotide mutations from roughly mapped disease loci. The lbab mouse is a useful model for hereditary human achondroplasia.",
author = "Yan Jiao and Jian Yan and Feng Jiao and Yang, {Hong Bin} and Donahue, {Leah Rae} and Xinmin Li and Roe, {Bruce A.} and John Stuart and Weikuan Gu",
year = "2007",
month = "4",
day = "17",
doi = "10.1186/1471-2156-8-16",
language = "English (US)",
volume = "8",
journal = "BMC Genetics",
issn = "1471-2156",
publisher = "BioMed Central",

}

TY - JOUR

T1 - A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice

AU - Jiao, Yan

AU - Yan, Jian

AU - Jiao, Feng

AU - Yang, Hong Bin

AU - Donahue, Leah Rae

AU - Li, Xinmin

AU - Roe, Bruce A.

AU - Stuart, John

AU - Gu, Weikuan

PY - 2007/4/17

Y1 - 2007/4/17

N2 - Background: The long bone abnormality (lbab) mouse is a new autosomal recessive mutant characterized by overall smaller body size with proportionate dwarfing of all organs and shorter long bones. Previous linkage analysis has located the lbab mutation on chromosome 1 between the markers D1 Mit9 and D1 Mit488. Results: A genome-based positional approach was used to identify a mutation associated with lbab disease. A total of 122 genes and expressed sequence tags at the lbab region were screened for possible mutation by using genomic DNA from lbabl/lbab, lbab/+, and +/+ B6 mice and high throughput temperature gradient capillary electrophoresis. A sequence difference was identified in one of the amplicons of gene Nppc between lbab/lbab and +/+ mice. One-step reverse transcriptase polymerase chain reaction was performed to validate the difference of Nppc in different types of mice at the mRNA level. The mutation of Nppc was unique in lbab/lbab mice among multiple mouse inbred strains. The mutation of Nppc is co-segregated with lbab disease in 200 progenies produced from heterozygous lbab/+ parents. Conclusion: A single nucleotide mutation of Nppc is associated with dwarfism in lbab/lbab mice. Current genome information and technology allow us to efficiently identify single nucleotide mutations from roughly mapped disease loci. The lbab mouse is a useful model for hereditary human achondroplasia.

AB - Background: The long bone abnormality (lbab) mouse is a new autosomal recessive mutant characterized by overall smaller body size with proportionate dwarfing of all organs and shorter long bones. Previous linkage analysis has located the lbab mutation on chromosome 1 between the markers D1 Mit9 and D1 Mit488. Results: A genome-based positional approach was used to identify a mutation associated with lbab disease. A total of 122 genes and expressed sequence tags at the lbab region were screened for possible mutation by using genomic DNA from lbabl/lbab, lbab/+, and +/+ B6 mice and high throughput temperature gradient capillary electrophoresis. A sequence difference was identified in one of the amplicons of gene Nppc between lbab/lbab and +/+ mice. One-step reverse transcriptase polymerase chain reaction was performed to validate the difference of Nppc in different types of mice at the mRNA level. The mutation of Nppc was unique in lbab/lbab mice among multiple mouse inbred strains. The mutation of Nppc is co-segregated with lbab disease in 200 progenies produced from heterozygous lbab/+ parents. Conclusion: A single nucleotide mutation of Nppc is associated with dwarfism in lbab/lbab mice. Current genome information and technology allow us to efficiently identify single nucleotide mutations from roughly mapped disease loci. The lbab mouse is a useful model for hereditary human achondroplasia.

UR - http://www.scopus.com/inward/record.url?scp=34248199847&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34248199847&partnerID=8YFLogxK

U2 - 10.1186/1471-2156-8-16

DO - 10.1186/1471-2156-8-16

M3 - Article

VL - 8

JO - BMC Genetics

JF - BMC Genetics

SN - 1471-2156

M1 - 16

ER -