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Loss-of-function mutations in TBC1d20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

Abstract:

blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and male infertility; genetic analyses assigned the bs locus to mouse chromosome 2. In this study, we first positionally cloned the bs locus and identified a putative causative mutation in the Tbc1d20 gene. Functional analysis established the mouse TBC1D20 protein as a GTPase-activating protein (GAP) for RAB1 and RAB2, and bs as a TBC1D20 ...

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Publisher copy:
10.1016/j.ajhg.2013.10.011

Authors


Liegel, RP More by this author
Handley, MT More by this author
Ronchetti, A More by this author
Langemeyer, L More by this author
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Journal:
American Journal of Human Genetics
Volume:
93
Issue:
6
Pages:
1001-1014
Publication date:
2013-12-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:3bc31c89-f933-4ffa-84de-67733301f11e
Source identifiers:
444773
Local pid:
pubs:444773
Language:
English

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