TO: MEMBERS OF THE CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM
Amos, Boston U, USA Horst, Münster, West Germany
Anvret, Stockholm, Sweden Jaume-Roig, Son Dureta, Spain
Barker, U Alabama Birm, USA Kalaydjieva, Sofia, Bulgaria
Barranger, Los Angeles, USA Kant, U Penn, USA
Barton, Cambridge, England Kitzis, CHU-Paris, France
Beaudet, Baylor, USA Klinger, Integ Genet, USA
Baranov, Leningrad, USSR Knight, London, England
Boué, Paris, France Krueger, Hahnemann, USA
Bowcock, Stanford, USA Lavinha, Lisboa Codex, Portugal
Cao, U Cagliari, Italy Lissens, Vrije U Brussels, Belgium
Carbonara, Torino, Italy Loukopoulos, Athens, Greece
Cassiman, U Leuven, Belgium Lucotte, College de France
Claustres, Montpellier, France Malcolm, ICH-London, England
Cochaux, Brussels, Belgium Malik, Basler-Basel, Switzerland
Collins, U Michigan, USA Mao, Collab Res, USA
Coskun, Hacettepe U, Turkey McIntosh, WGH-Edinburgh, Scotland
Cutting, Johns Hopkins, USA Morel, Lyon, France
Dallapiccola, Roma, Italy Morgan, McGill, Canada
De Arce, Dublin, Ireland Naylor, UT San Antonio, USA
de la Chapelle, Helsinki, Finland Nukiwa, Tokyo, Japan
Dean, NCI Frederick, USA Olek, U Bonn, West Germany
Desnick, Mount Sinai, New York, USA Orr, U Minnesota, USA
Edkins, Perth, Australia Pignatti, U Verona, Italy
Edwards, Oxford, England Ramsay, SAMIR, South Africa
Efremov, Skopje, Yugoslavia Richards, GeneScreen, USA
Elles, St Mary's-Manchester, England Romeo, Gaslini-Genoa, Italy
Erlich, Cetus, USA Rowley, Rochester, USA
Estivill, Barcelona, Spain Rozen, Montreal Children, Canada
Ferec, Brest, France Scheffer,UGroningen,The Netherlands
Ferrari, Milano, Italy Schmidtke, IHG, Berlin
Gerard, Harvard, USA Schwartz, U Copenhagen, Denmark
Gilbert, Cornell, New York, USA Sebastio, Naples, Italy
Godet, Villeurbanna, France Seltzer, U Colorado, USA
Goossens, Creteil, France Spona, Vienna, Austria
Graham, Belfast, N Ireland Super, Royal Manchester, England
Gruenert, UCSF, USA Thibodeau, Rochester, USA
Halley, Rotterdam, The Netherlands Tümmler, Hannova, West Germany
Harris, Guy's-London, England Verellen-Dumoulin,Bruxelles,Belgium
Higgins, Birmingham, England Willems, U Antwerp, Belgium
Highsmith, NC Mem Hosp, USA Williamson,St Mary'sLondon,England
FROM: LAP-CHEE TSUI TOTAL NUMBER OF PAGES: 13
NEWSLETTER #22, July 30, 1990
1. Julian Zielenski has finally put together the exon/intron boundaries for all 27 exons of the CF gene. Each exon is verified by a pair of flanking oligonucleotides, except for exon 13 which requires 2 sets to cover its large size. The sequences are all double-checked (by Julian and his family). There are some corrections to the previously reported sequences. There is one difference noted between intron 6a of this version and that submitted by Horn et al (Newsletter #21); there are numerous difference between intron 2 reported here and that by Wicking (Newsletter #20). The sequences for exons 7 and 8 agree well with that presented by Estivill and Morral (Newsletter #10 and #18).
2. Dean, Gerrard and Sabastio report a frame shift mutation in exon 13 (2522insC); see attached letter.
3. Osborne, Santis and Knight are requesting data for N1303K; see attached letter.
4. Chris Higgins of Imperial Cancer Research Fund at University of Oxford has performed an analysis on some of the known CF mutations with his model of the ATP-binding sites of CFTR (see July 26 issue of Nature). He now wants to incorporate in his 3-D model information about the additional CF mutations (which he obtained presumably from one of the consortium members), some of which are not yet published; he has asked me for my opinion (see letter). Chris has kindly agree that he would present his model to members of the consortium; this will simply be circulated for information as an annotated color photograph, pointing out where the model structure the mutations lie, but will not be published in any form.
From his letter, I gather that Chris would also like to send the pictures to other CF researchers who are not members of the consortium. I would like to hear your opinion. Please drop me a note as soon as possible. If I do not hear from you by August 7, I would assume that you have no objection to the proposal.
5. We have prepared the new summary table (12 pages) which includes data up to July 26. Unfortunately, I was unable to include it in this newsletter because it would exceed the memory limit of the automatic transmission. Therefore, it will be send next week, along with a few more new mutations.
6. A number of papers have been published on CF mutations. If you have any papers or manuscripts which may be cited by others, please send me the authors and titles with a short description of the contents (a copy of the entire paper would be most welcome).