Journal ArticleDOI
A double RING-H2 domain in RNF32, a gene expressed during sperm formation.
Marijke J. van Baren,Herma C. van der Linde,Guido J. Breedveld,Willy M. Baarends,Patrizia Rizzu,Esther de Graaff,Ben A. Oostra,Peter Heutink +7 more
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TLDR
The RING domain is a cysteine-rich zinc-binding motif, which is found in a wide variety of proteins, among which are several proto-oncogenes and the gene implicated in autosomal recessive juvenile parkinsonism, Parkin.About:
This article is published in Biochemical and Biophysical Research Communications.The article was published on 2002-03-22. It has received 20 citations till now. The article focuses on the topics: RING finger domain & EGF-like domain.read more
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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
Laura A. Lettice,Simon J. H. Heaney,Lorna A. Purdie,Li Li,Philippe de Beer,Ben A. Oostra,Debbie K. Goode,Greg Elgar,Robert E. Hill,Esther de Graaff +9 more
TL;DR: It is shown that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element, a regulator that lies within intron 5 of the Lmbr1 gene 1 Mb from the target gene Shh.
Journal ArticleDOI
Developmental regulation of ubiquitin C-terminal hydrolase isozyme expression during spermatogenesis in mice.
Jungkee Kwon,Yu Lai Wang,Rieko Setsuie,Satoshi Sekiguchi,Mikako Sakurai,Yae Sato,Won Woo Lee,Yoshiyuki Ishii,Shigeru Kyuwa,Mami Noda,Keiji Wada,Yasuhiro Yoshikawa +11 more
TL;DR: UCH-L1 and UCH-L3 have distinct functions during spermatogenesis, namely, that UCH- l1 may act during mitotic proliferation of sperMatogonial stem cells whereas UCH- L3 may function in the meiotic differentiation of s permatocytes into sper matids.
Journal ArticleDOI
AP7, a Partially Disordered Pseudo C-RING Protein, Is Capable of Forming Stabilized Aragonite in Vitro†
TL;DR: Novel findings are reported which implicate AP7 as a member of the intrinsically disordered protein class (IDP) and reveal new aspects of AP7 mineralization activity, including the ability of a partially disordered C-RING protein to perform inorganic phase stabilization.
Journal ArticleDOI
Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities.
Laura A. Lettice,Robert E. Hill +1 more
TL;DR: Genetic analysis of PPD highlights the notion that regulatory mutations might generate phenotypes distinct from any of those identified for coding region mutations.
Journal ArticleDOI
How to make a zone of polarizing activity: Insights into limb development via the abnormality preaxial polydactyly
TL;DR: In this article, the authors investigated the genetic basis of preaxial polydactyly (PPD) and found that mutations in the long-range, limb-specific regulatory element of the Shh gene are responsible for the defect.
References
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Book
Molecular Cloning: A Laboratory Manual
TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
Journal ArticleDOI
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
Yoshio Miki,Jeff Swensen,Donna M Shattuck-Eidens,P. Andrew Futreal,Keith D Harshman,Sean V. Tavtigian,Qingyun Liu,Charles Cochran,L. Michelle Bennett,Wei Ding,Russell Bell,Judith Rosenthal,Charles E. Hussey,Thanh Tran,Melody McClure,Cheryl Frye,Tom Hattier,Robert Phelps,Astrid Haugen-Strano,Harold Katcher,Kazuko Yakumo,Zahra Gholami,Daniel Shaffer,Steven Stone,Steven Bayer,Christian Wray,Robert Bogden,Priya Dayananth,John R. Ward,Patricia N. Tonin,Steven A. Narod,Pam K. Bristow,Frank H. Norris,Leah M. Helvering,Paul Morrison,Paul Robert Rosteck,Mei Lai,J. Carl Barrett,Cathryn M. Lewis,Susan L. Neuhausen,Lisa A. Cannon-Albright,David E. Goldgar,Roger W. Wiseman,Alexander Kamb,Mark H. Skolnick +44 more
TL;DR: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.
Journal ArticleDOI
An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs
TL;DR: 5'-Noncoding sequences have been compiled from 699 vertebrate mRNAs and GCCA/GCCATGG emerges as the consensus sequence for initiation of translation in vertebrates.
Journal ArticleDOI
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Tohru Kitada,Shuichi Asakawa,Nobutaka Hattori,Hiroto Matsumine,Yasuhiro Yamamura,Shinsei Minoshima,Masayuki Yokochi,Yoshikuni Mizuno,Nobuyoshi Shimizu +8 more
TL;DR: Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.
Related Papers (5)
A Novel Candidate Gene for Mouse and Human Preaxial Polydactyly with Altered Expression in Limbs of Hemimelic extra-toes Mutant Mice ☆
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Laura A. Lettice,Taizo Horikoshi,Simon J. H. Heaney,Marijke J. van Baren,Herma C. van der Linde,Guido J. Breedveld,Marijke Joosse,Nurten A. Akarsu,Ben A. Oostra,Naoto Endo,Minoru Shibata,Mikio Suzuki,Ei-ichi Takahashi,Toshikatsu Shinka,Yutaka Nakahori,Dai Ayusawa,Kazuhiko Nakabayashi,Stephen W. Scherer,Peter Heutink,Robert E. Hill,Sumihare Noji +20 more