Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus
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Author / Creator
Lee, Jeong Ho , Silhavy, Jennifer L. , Lee, Ji Eun , Al-Gazali, Lihadh , Thomas, Sophie , Davis, Erica E. , Bielas, Stephanie L. , Hill, Kiley J. , Iannicelli, Miriam , Brancati, Francesco , Gabriel, Stacey B. , Russ, Carsten , Logan, Clare V. , Sharif, Saghira Malik , Bennett, Christopher P. , Abe, Masumi , Hildebrandt, Friedhelm , Diplas, Bill H. , Attié-Bitach, Tania , Katsanis, Nicholas , Rajab, Anna , Koul, Roshan , Sztriha, Laszlo , Waters, Elizabeth R. , Ferro-Novick, Susan , Woods, C. Geoffrey , Johnson, Colin A. , Valente, Enza Maria , Zaki, Maha S. and Gleeson, Joseph G.
Publisher
American Association for the Advancement of Science
Journal title
Language
English
Formats
Publication information
Publisher
American Association for the Advancement of Science
Subjects
More information
Scope and Contents
Contents
Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are ali...
Alternative Titles
Full title
Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Authors, Artists and Contributors
Author / Creator
Silhavy, Jennifer L.
Lee, Ji Eun
Al-Gazali, Lihadh
Thomas, Sophie
Davis, Erica E.
Bielas, Stephanie L.
Hill, Kiley J.
Iannicelli, Miriam
Brancati, Francesco
Gabriel, Stacey B.
Russ, Carsten
Logan, Clare V.
Sharif, Saghira Malik
Bennett, Christopher P.
Abe, Masumi
Hildebrandt, Friedhelm
Diplas, Bill H.
Attié-Bitach, Tania
Katsanis, Nicholas
Rajab, Anna
Koul, Roshan
Sztriha, Laszlo
Waters, Elizabeth R.
Ferro-Novick, Susan
Woods, C. Geoffrey
Johnson, Colin A.
Valente, Enza Maria
Zaki, Maha S.
Gleeson, Joseph G.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_jstor_primary_41508120
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_jstor_primary_41508120
Other Identifiers
ISSN
0036-8075
E-ISSN
1095-9203
