TY - JOUR
T1 - Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region
AU - Berry, Asher
AU - Scott, Hamish S.
AU - Kudoh, Jun
AU - Talior, Ilana
AU - Korostishevsky, Michael
AU - Wattenhofer, Marie
AU - Guipponi, Michel
AU - Barras, Christine
AU - Rossier, Colette
AU - Shibuya, Kazunori
AU - Wang, Jun
AU - Kawasaki, Kazuhiko
AU - Asakawa, Shuichi
AU - Minoshima, Shinsei
AU - Shimizu, Nobuyoshi
AU - Antonarakis, Stylianos
AU - Bonné-Tamir, Batsheva
N1 - Funding Information:
The laboratory of B.B-T. is supported in part by Grant 1140115 from the Applebaum Foundation. We also thank Dr. Sari Weiss and Prof. Moshe Frydman of Sackler School of Medicine, and Drs. Lindsay Farrer and Clinton Baldwin of Boston University School of Medicine for their contribution to the early linkage studies on this family. The laboratory of S.E.A. is supported by Grants 31.40500.94 and 31.57149.99 from the Swiss FNRS, 98-3039 from the OFES/EU, and funds from the University and Cantonal Hospital of Geneva. The laboratory staff of N.S. thank all members of the genomic sequencing team in the Laboratory of Genomic Medicine, Keio University School of Medicine for their contribution to this work, which was supported in part by the Fund for the Human Genome Sequencing Project from the Japan Science and Technology Corp. (JST); Grants in Aid for Scientific Research on Priority Areas and Scientific Research from the Ministry of Education, Science, Sports, and Culture of Japan; and the Fund for “Research for the Future” Program from the Japan Society for the Promotion of Science (JSPS).
PY - 2000/8/15
Y1 - 2000/8/15
N2 - An autosomal recessive nonsyndromic deafness locus, DFNB10, was previously localized to a 12-cM region near the telomere of chromosome 21 (21q22.3). This locus was discovered in a large, consanguineous Palestinian family. We have identified and ordered a total of 50 polymorphic microsatellite markers in 21q22.3, comprising 16 published and 34 new markers, precisely mapped and ordered on BAC/cosmid contigs. Using these microsatellite markers, the locus for DFNB10 has been refined to an area of less than 1 Mb between markers 1016E7.CA60 and 1151C12.GT45. Six previously published cDNAs were mapped to this critical region, and their genomic structures were determined to facilitate mutation analysis in DFNB10. All six genes in this region (in order from centromere to telomere: White/ABCG1, TFF3, TFF2, TFF1, PDE9A, and NDUVF3) have been screened and eliminated as candidates for DFNB10. The new microsatellite markers and single nucleotide polymorphisms identified in this study should enable the refined mapping of other genetic diseases that map to 21q22.3. In addition, the critical region for DFNB10 has been reduced to a size amenable to an intensive positional cloning effort. (C) 2000 Academic Press.
AB - An autosomal recessive nonsyndromic deafness locus, DFNB10, was previously localized to a 12-cM region near the telomere of chromosome 21 (21q22.3). This locus was discovered in a large, consanguineous Palestinian family. We have identified and ordered a total of 50 polymorphic microsatellite markers in 21q22.3, comprising 16 published and 34 new markers, precisely mapped and ordered on BAC/cosmid contigs. Using these microsatellite markers, the locus for DFNB10 has been refined to an area of less than 1 Mb between markers 1016E7.CA60 and 1151C12.GT45. Six previously published cDNAs were mapped to this critical region, and their genomic structures were determined to facilitate mutation analysis in DFNB10. All six genes in this region (in order from centromere to telomere: White/ABCG1, TFF3, TFF2, TFF1, PDE9A, and NDUVF3) have been screened and eliminated as candidates for DFNB10. The new microsatellite markers and single nucleotide polymorphisms identified in this study should enable the refined mapping of other genetic diseases that map to 21q22.3. In addition, the critical region for DFNB10 has been reduced to a size amenable to an intensive positional cloning effort. (C) 2000 Academic Press.
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U2 - 10.1006/geno.2000.6253
DO - 10.1006/geno.2000.6253
M3 - Article
C2 - 10950923
AN - SCOPUS:0034662762
SN - 0888-7543
VL - 68
SP - 22
EP - 29
JO - Genomics
JF - Genomics
IS - 1
ER -