Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3–p22.2

• Published in: Genomics (San Diego, Calif.) Vol. 25; no. 2; pp. 526 - 537
• Main Authors: Herrell, Sandra, Novo, Francisco J., Charlton, Ruth, Affara, Nabeel A.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 20-01-1995; Elsevier
• Subjects: Albinism, Oculocutaneous - genetics; Amelogenesis Imperfecta - genetics; Base Sequence; Biological and medical sciences; Chondrodysplasia Punctata - genetics; Chromosome Walking; Chromosomes, Artificial, Yeast; Diseases of the osteoarticular system; Dosage Compensation, Genetic; Humans; Intellectual Disability - genetics; Kallmann Syndrome - genetics; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Microphthalmos - genetics; Molecular Sequence Data; Sequence Deletion; Sequence Tagged Sites; Sex Chromosome Aberrations - genetics; X Chromosome; Genetic mapping; Human; Skin disease; Pigmentation disorder; Chondrodysplasia punctata; Diseases of the osteoarticular system; Oculocutaneous albinism; Metabolic diseases; Enzymopathy; Mental retardation; Artificial chromosome; Genetic disease; Eye disease; Gene; Contig; Peroxisomal disorders; X-Chromosome; Osteochondrodysplasia; Physical map; Aminoacid disorder
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1016/0888-7543(95)80054-P

A total of 54 YAC clones have been isolated from the region of Xp22.2–p22.3 extending from the amelogenin gene locus to DXS31. Restriction analysis of these clones in association with STS contenting and end clone analysis has facilitated the construction of 6 contigs covering a total of 7 Mb in which 20 potential CpG islands have been located. Thirty new STSs have been developed from probe and YAC end clone sequences, and these have been used in the analysis of patients suffering from different combinations of chondrodysplasia punctata, mental retardation, X-linked ichthyosis, and Kallmann syndrome. The results suggest that (1) the gene for chondrodysplasia punctata must lie between the X chromosome pseudoautosomal boundary (PABX) and DXS1145; (2) a gene for mental retardation lies between DXS1145 and the sequence tagged site GS1; and (3) the gene for ocular albinism type 1 lies proximal to the STS G13. The CpG islands within the YAC contigs constitute valuable markers for the potential positions of genes. Genes found associated with any of these potential CpG islands would be possible candidates for the disease genes mentioned above.