Journal ArticleDOI
Maps from two interspecific backcross DNA panels available as a community genetic mapping resource
Lucy B. Rowe,J. H. Nadeau,R. Turner,Wayne N. Frankel,Verity A. Letts,Janan Eppig,Minoru S.H. Ko,S. J. Thurston,Edward H. Birkenmeier +8 more
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TLDR
Large quantities of DNA from most tissues of each animal are prepared to create a community resource of interspecific backcross DNA for use by laboratories interested in mapping loci in the mouse.Abstract:
We established two mouse interspecific backcross DNA panels, one containing 94 N2 animals from the cross (C57BL/6J × Mus spretus)F1 × C57BL/6J, and another from 94 N2 animals from the reciprocal backcross (C57BL/6J × SPRET/Ei)F1 × SPRET/Ei. We prepared large quantities of DNA from most tissues of each animal to create a community resource of interspecific backcross DNA for use by laboratories interested in mapping loci in the mouse. Initial characterization of the genetic maps of both panels has been completed. We used MIT SSLP markers, proviral loci, and several other sequence-defined genes to anchor our maps to other published maps. The BSB panel map (from the backcross to C57BL/6J) contains 215 loci and is anchored by 45 SSLP and 32 gene sequence loci. The BSS panel map (from the backcross to SPRET/Ei) contains 451 loci and is anchored by 49 SSLP loci, 43 proviral loci, and 60 gene sequence loci. To obtain a high density of markers, we used motif-primed PCR to “fingerprint” the panel DNAs. We constructed two maps, each representing one of the two panels. All new loci can be located with a high degree of certainty on the maps at current marker density. Segregation patterns in these data reveal several examples of transmission ratio distortion and permit analysis of the distribution of crossovers on individual chromosomes.read more
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p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities.
Annie Yang,Mourad Kaghad,Yunmei Wang,Emily Gillett,Mark D. Fleming,Mark D. Fleming,Mark D. Fleming,Volker Dötsch,Nancy C. Andrews,Nancy C. Andrews,Daniel Caput,Frank McKeon +11 more
TL;DR: The cloning of p63, a gene at chromosome 3q27-29 that bears strong homology to the tumor suppressor p53 and to the related gene, p73, is described and the possibility of physiological interactions among members of the p53 family is suggested.
Journal ArticleDOI
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
Rando Allikmets,Nanda A. Singh,Hui Sun,Noah F. Shroyer,Amy Hutchinson,Abirami Chidambaram,Bernard Gerrard,Lisa Baird,Dora Stauffer,Andy Peiffer,Amir Rattner,Philip M. Smallwood,Yixin Li,Kent L. Anderson,Richard A. Lewis,Jeremy Nathans,Mark Leppert,Michael Dean,James R. Lupski +18 more
TL;DR: Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage, indicating that ABCR is the causal gene of STGD/FFM.
Journal ArticleDOI
Vanilloid Receptor–Related Osmotically Activated Channel (VR-OAC), a Candidate Vertebrate Osmoreceptor
Wolfgang Liedtke,Yong Choe,Marc A. Marti-Renom,Andrea M. Bell,Andrea M. Bell,Charlotte S. Denis,Charlotte S. Denis,AndrejŠali,A. J. Hudspeth,A. J. Hudspeth,Jeffrey M. Friedman,Jeffrey M. Friedman,Stefan Heller +12 more
TL;DR: This work cloned cDNAs encoding the vanilloid receptor-related osmotically activated channel (VR-OAC) from the rat, mouse, human, and chicken, a novel cation-selective channel that is gated by exposure to hypotonicity within the physiological range.
Journal ArticleDOI
Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally
Eugene Varfolomeev,Marcus Schuchmann,Victor Luria,N. Chiannilkulchai,Jacques S. Beckmann,Igor Mett,Denis V. Rebrikov,Vadim M Brodianski,Oliver Kemper,Orit Kollet,Tsvee Lapidot,Dror Soffer,Tama Sobe,Karen B. Avraham,Tanya Goncharov,Helmut Holtmann,Peter Lonai,David Wallach +17 more
TL;DR: Findings indicate that Caspase 8 plays a necessary and nonredundant role in death induction by several receptors of the TNF/NGF family and serves a vital role in embryonal development.
Journal ArticleDOI
Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice
Paul Saftig,Ernst Hunziker,Olaf Wehmeyer,Sheila J. Jones,Alan Boyde,Winfried Rommerskirch,Jörg Detlev Moritz,Peter Schu,Kurt von Figura +8 more
TL;DR: Assaying the resorptive activity of cathepsin-K-deficient osteoclasts in vitro revealed this function to be severely impaired, which supports the contention that cathepsypsin K is of major importance in bone remodeling.
References
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Journal ArticleDOI
DNA polymorphisms amplified by arbitrary primers are useful as genetic markers
TL;DR: A new DNA polymorphism assay based on the amplification of random DNA segments with single primers of arbitrary nucleotide sequence is described, suggesting that these polymorphisms be called RAPD markers, after Random Amplified Polymorphic DNA.
Journal ArticleDOI
Fingerprinting genomes using PCR with arbitrary primers
John Welsh,Michael McClelland +1 more
TL;DR: The generality of the arbitrarily primed PCR method is demonstrated by application to twenty four strains from five species of Staphylococcus, eleven strains of Streptococcus pyogenes and three varieties of Oryza sativa.
Journal ArticleDOI
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
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Journal Article
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
James L. Weber,P E May +1 more
TL;DR: It is reported that specific human (dC-dA)n.(dG-dT)n blocks are polymorphic in length among individuals and therefore represent a vast new pool of potential genetic markers.
Journal ArticleDOI
A general method for isolation of high molecular weight DNA from eukaryotes
Nikolaus Blin,Darrel W. Stafford +1 more
TL;DR: A new method for isolation of high molecular weight DNA from eukaryotes is presented, which allows preparation of DNA from a variety of tissues and from cells which were more difficult to lyse until now.