Chemistry: molecular biology and microbiology – Micro-organism – per se ; compositions thereof; proces of... – Bacteria or actinomycetales; media therefor
Patent
1996-09-17
1998-07-07
Chambers, Jasemine C.
Chemistry: molecular biology and microbiology
Micro-organism, per se ; compositions thereof; proces of...
Bacteria or actinomycetales; media therefor
435 6, 435 691, 4351723, 435325, 536 231, 536 243, 536 2431, 536 235, C07H 2104, C12Q 168, C12N 1570, C12N 1574
Patent
active
057767629
ABSTRACT:
The gene responsible for the autosomal recessive mouse obesity mutation tub was identified by positional cloning. The homologous human gene is also provided. The genes are used to produce tubby protein; in screening for compositions that modulate the expression or function of the tubby protein; and in studying associated physiological pathways. The DNA is further used as a diagnostic for genetic predisposition to obesity, retinal degeneration or cochlear degeneration. The mutation responsible for the tub phenotype is a G to T transversion that abolishes a donor splice site in the 3' coding region and results in a larger transcript containing the unspliced intron. A second, prematurely truncated transcript arises from the introduction of a premature polyadenylation site in the unspliced intron.
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Naggert Juergen
Nishina Patsy
Noben-Trauth Konrad
North Michael
Chambers Jasemine C.
Priebe Scott D.
Sequana Therapeutics, Inc.
Sherwood Pamela J.
The Jackson Laboratory
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