scholarly journals Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

2005 ◽  
Vol 76 (4) ◽  
pp. 663-671 ◽  
Author(s):  
Katherine L. Hill-Harfe ◽  
Lee Kaplan ◽  
Heather J. Stalker ◽  
Roberto T. Zori ◽  
Ramona Pop ◽  
...  
Keyword(s):  
Fine Mapping ◽  
Skeletal Dysplasia ◽  
Chromosome 17 ◽  
Campomelic Dysplasia ◽  
Translocation Breakpoints ◽  
Acampomelic Campomelic Dysplasia

scholarly journals A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

2017 ◽  
Vol 5 (3) ◽  
pp. 261-268 ◽  
Author(s):  
Anna E. von Bohlen ◽  
Johann Böhm ◽  
Ramona Pop ◽  
Diana S. Johnson ◽  
John Tolmie ◽  
...  
Keyword(s):  
Initiation Codon ◽  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia

scholarly journals Acampomelic campomelic dysplasia with SOX9 mutation

2000 ◽  
Vol 2 (1) ◽  
pp. 88-88
Author(s):  
M K Thong ◽  
G Scherer ◽  
K Koztowski ◽  
E Haan ◽  
L Morris
Keyword(s):  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia

scholarly journals Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

2019 ◽  
Vol 7 (7) ◽  
pp. 1352-1354
Author(s):  
Marie‐Julie Debuf ◽  
Valérie Benoit ◽  
Marie Cassart ◽  
Kalina Gajewska ◽  
Nathalie Gauquier ◽  
...  
Keyword(s):  
Campomelic Dysplasia ◽  
Olfactory Bulbs ◽  
Acampomelic Campomelic Dysplasia ◽  
Diagnostic Indicator

Fine mapping of 12 microsatellites and two new recombinants in the distal H2 complex on mouse chromosome 17

1997 ◽  
Vol 45 (4) ◽  
pp. 274-277 ◽  
Author(s):  
Hong Xiao ◽  
Elsy P. Jones ◽  
Ziyi Zhu ◽  
K. Fischer Lindahl
Keyword(s):  
Mouse Chromosome ◽  
Fine Mapping ◽  
Chromosome 17

scholarly journals Analysis of barley mutants ert-c.1 and ert-d.7 reveals two loci with additive effect on plant architecture

Planta ◽  
2021 ◽  
Vol 254 (1) ◽  
Author(s):  
Qiongxian Lu ◽  
Christoph Dockter ◽  
Nick Sirijovski ◽  
Shakhira Zakhrabekova ◽  
Udda Lundqvist ◽  
...  
Keyword(s):  
Genetic Distance ◽  
Fine Mapping ◽  
Linkage Mapping ◽  
Double Mutant ◽  
Plant Architecture ◽  
Region Of Interest ◽  
Principal Coordinate Analysis ◽  
Additive Effects ◽  
Marker Interval ◽  
Translocation Breakpoints

Abstract Main conclusion Both mutant ert-c.1 and ert-d.7 carry T2-T3 translocations in the Ert-c gene. Principal coordinate analyses revealed the translocation types and translocation breakpoints. Mutant ert-d.7 is an Ert-cErt-d double mutant. Abstract Mutations in the Ert-c and Ert-d loci are among the most common barley mutations affecting plant architecture. The mutants have various degrees of erect and compact spikes, often accompanied with short and stiff culms. In the current study, complementation tests, linkage mapping, principal coordinate analyses and fine mapping were conducted. We conclude that the original ert-d.7 mutant does not only carry an ert-d mutation but also an ert-c mutation. Combined, mutations in Ert-c and Ert-d cause a pyramid-dense spike phenotype, whereas mutations in only Ert-c or Ert-d give a pyramid and dense phenotype, respectively. Associations between the Ert-c gene and T2-T3 translocations were detected in both mutant ert-c.1 and ert-d.7. Different genetic association patterns indicate different translocation breakpoints in these two mutants. Principal coordinate analysis based on genetic distance and screening of recombinants from all four ends of polymorphic regions was an efficient way to narrow down the region of interest in translocation-involved populations. The Ert-c gene was mapped to the marker interval of 2_0801to1_0224 on 3HL near the centromere. The results illuminate a complex connection between two single genes having additive effects on barley spike architecture and will facilitate the identification of the Ert-c and Ert-d genes.

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