TY - JOUR
T1 - Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection
AU - Pandolfo, M.
AU - Pizzuti, A.
AU - Redolfi, E.
AU - Munaro, M.
AU - Di Donato, S.
AU - Cavalcanti, F.
AU - Filla, A.
AU - Monticelli, A.
AU - Pianese, L.
AU - Cocozza, S.
PY - 1994
Y1 - 1994
N2 - The Friedreich ataxia (FRDA) locus is localized on chromosome 9q13 in an interval less than 1 Mb between markers D9S202/FR1 and FR5. We cloned the FRDA candidate region in YACs, and we started a systematic search for transcripts in this region using the cDNA selection approach. Several overlapping cDNA clones mapping near the telomeric end of the FRDA minimum genetic region were isolated. Zoo blot analysis demonstrated that these cDNAs are well conserved among different species. A transcript of 4.8 kb was identified by hybridization to a Northern blot containing human brain poly(A)+ RNA. Partial sequence of these clones showed 100% homology with a previously described anonymous brain cDNA (EST01251). A search for mutations of this gene in FRDA patients and carriers is in progress. No mutations have been found to date, but we have identified a DNA polymorphism. This polymorphism was nonrecombinant with the disease in a previously described FRDA pedigree in which a recombination had occurred with more telomeric markers.
AB - The Friedreich ataxia (FRDA) locus is localized on chromosome 9q13 in an interval less than 1 Mb between markers D9S202/FR1 and FR5. We cloned the FRDA candidate region in YACs, and we started a systematic search for transcripts in this region using the cDNA selection approach. Several overlapping cDNA clones mapping near the telomeric end of the FRDA minimum genetic region were isolated. Zoo blot analysis demonstrated that these cDNAs are well conserved among different species. A transcript of 4.8 kb was identified by hybridization to a Northern blot containing human brain poly(A)+ RNA. Partial sequence of these clones showed 100% homology with a previously described anonymous brain cDNA (EST01251). A search for mutations of this gene in FRDA patients and carriers is in progress. No mutations have been found to date, but we have identified a DNA polymorphism. This polymorphism was nonrecombinant with the disease in a previously described FRDA pedigree in which a recombination had occurred with more telomeric markers.
UR - http://www.scopus.com/inward/record.url?scp=0028018938&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028018938&partnerID=8YFLogxK
U2 - 10.1006/bmmb.1994.1041
DO - 10.1006/bmmb.1994.1041
M3 - Article
C2 - 7993657
AN - SCOPUS:0028018938
VL - 52
SP - 115
EP - 119
JO - Biochemical Medicine and Metabolic Biology
JF - Biochemical Medicine and Metabolic Biology
SN - 0885-4505
IS - 2
ER -