Molecular characterization of the goat CSN1S101 allele

2003 ◽  
Vol 70 (2) ◽  
pp. 237-240 ◽  
Author(s):  
Gianfranco Cosenza ◽  
Rosa Illario ◽  
Andrea Rando ◽  
Paola di Gregorio ◽  
Piero Masina ◽  
...  

Caseins (αs1, β, αs2, e κ) represent about 80% of the whole protein content of ruminant milk. Each of these proteins is encoded by single copy genes (CSN1S1, CSN2, CSN1S2 and CSN3, respectively) clustered on a ∼200-kb segment of chromosome 6 (Ferretti et al. 1990; Gallagher et al. 1994) in the order: CSN1S1, CSN2, CSN1S2 and CSN3 (Mercier & Vilotte, 1993). Furthermore, in cattle and goat CSN1S1 and CSN2 are convergently transcribed (Leroux & Martin, 1996; Rijnkles et al. 1997) and are only 20 and 12 kb apart, respectively.

1994 ◽  
Vol 3 ◽  
pp. 107
Author(s):  
L Queimado ◽  
R Seruca ◽  
F Carneiro ◽  
L David ◽  
S Castedo ◽  
...  

2008 ◽  
Vol 146A (7) ◽  
pp. 925-929 ◽  
Author(s):  
Martina Höckner ◽  
Barbara Utermann ◽  
Martin Erdel ◽  
Christine Fauth ◽  
Gerd Utermann ◽  
...  

Genetics ◽  
2002 ◽  
Vol 160 (1) ◽  
pp. 279-287
Author(s):  
Kathleen F Benson ◽  
Kiran Chada

Abstract Chromosomal rearrangements provide an important resource for molecular characterization of mutations in the mouse. In(10)17Rk mice contain a paracentric inversion of ~50 Mb on chromosome 10. Homozygous In(10)17Rk mice exhibit a pygmy phenotype, suggesting that the distal inversion breakpoint is within the pygmy locus. The pygmy mutation, originally isolated in 1944, is an autosomal recessive trait causing a dwarf phenotype in homozygous mice and has been mapped to the distal region of chromosome 10. The pygmy phenotype has subsequently been shown to result from disruption of the Hmgi-c gene. To identify the In(10)17Rk distal inversion breakpoint, In(10)17Rk DNA was subjected to RFLP analysis with single copy sequences derived from the wild-type pygmy locus. This analysis localized the In(10)17Rk distal inversion breakpoint to intron 3 of Hmgi-c and further study determined that a fusion transcript between novel 5′ sequence and exons 4 and 5 of Hmgi-c is created. We employed 5′ RACE to isolate the 5′ end of the fusion transcript and this sequence was localized to the proximal end of chromosome 10 between markers Cni-rs2 and Mtap7. Northern blot analysis of individual tissues of wild-type mice determined that the gene at the In(10)17Rk proximal inversion breakpoint is a novel muscle-specific gene and its disruption does not lead to a readily observable phenotype.


2006 ◽  
Vol 175 (4S) ◽  
pp. 467-467
Author(s):  
Victor K. Lin ◽  
Shih-Ya Wang ◽  
Claus G. Roehrbom

2012 ◽  
Vol 224 (03) ◽  
Author(s):  
A Streltsov ◽  
S Emmrich ◽  
F Engeland ◽  
JH Klusmann

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