Pycnodysostosis: Refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes

Human Genetics

Volumn 98, Issue 2, 1996, Pages 141-144

  Gelb, Bruce D ^a   Spencer, Eric ^a   Obad, Suliman ^b   Edelson, Gordon J ^b   Faure, Simon ^c   Weissenbach, Jean ^c   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Poriya Hospital   (Israel)

^c GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; INTERLEUKIN 6 RECEPTOR;

ARTICLE; ASIA; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CHROMOSOME 1Q; CONSANGUINITY; CONTROLLED STUDY; DIPLOIDY; DNA RECOMBINATION; DNA SEQUENCE; FAMILY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MARKER GENE; ONCOGENE; PRIORITY JOURNAL; RADIATION;

BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CONSANGUINITY; DNA PRIMERS; DYSOSTOSES; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; GENOTYPE; HAPLOTYPES; HUMANS; HYBRID CELLS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA;

EID: 0029949459     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050177     Document Type: Article

References (18)

1. Andren L, Dymling JF, Hogeman KE, Wendeberg B (1962) Osteopetrosis acro-osteolytica: a syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull. Acta Chir Scand 124: 496-507
2. Boehnke M, Lange K, Cox DR (1991) Statistical methods for multipoint radiation hybrid mapping. Am J Hum Genet 49:1174-1188
3. Cox DR, O'Connor K, Hebert S, Harris M, Lee R, Stewart B, DiSibio G, Boehnke M, Lange K, Goold R, Myers RM (1994) Construction and analysis of a panel of "whole genome" radiation hybrids. Am J Hum Genet 55:A23
4. Craig RW, Jabs EW, Zhou P, Kozopas KM, Hawkins AL, Rochelle JM, Seldin MF, Griffin CA (1994) Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome Iq21, a region that is frequently altered in preneoplastic and neoplastic disease. Genomics 23:457-463
5. Edelson JG, Obad S, Geiger R, On A, Artul HJ (1992) Pycnodysostosis: orthopedic aspects with a description of 14 new cases. Clin Orthop 280:263-276
6. Frey JB (1995) What dwarfed Toulouse-Lautrec? Nat Genet 10: 128-130
7. Gelb BD, Edelson JG, Desnick RJ (1995) Linkage of pycnodysostosis to chromosome Iq21 by homozygosity mapping. Nat Genet 10:235-237
8. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernard! G, Lathrop M, Weissenbach J (1994) The 1993-94 Genethon human genetic linkage map. Nat Genet 7: 246-330
9. Kishimoto T, Akira S, Taga T (1992) IL-6 receptor and mechanism of signal transduction. Int. J. Immunopharmacol 14:431-438
10. Kluek PMC, Wiegant J, Jansen RPM, Bolk MWJ, Raap AK, Willemz R, Landegent JE (1993) The human interleukin-6 receptor alpha chain gene is localized on chromosome 1 band q21. Hum Genet 90:542-544
11. Kozopas KM, Yang T, Buchan HL, Zhou P, Craig RW (1993) MCL1, a gene expressed in programmed myeloid cell differentiation, has sequence similarity to BCL2. Proc Natl Acad Sci USA 90:3516-3520
12. Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56: 519-527
13. Maroteaux P (1993) La maladie de Toulouse-Lautrec. Presse Med 23:1635-1640
14. Maroteaux P, Lamy M (1962) La pycnodysostose. Presse Med 70:999-1002
15. Maroteaux P, Lamy M (1965) The malady of Toulouse-Lautrec. JAMA 191:715-717
16. Polymeropoulos MH, Ortiz de Luna RI, Ide SE, Torres R, Rubenstein J, Francomano CA (1995) The gene for pycnodysostosis maps to human chromosome Icen-q21. Nat Genet 10:238-239
17. Sedano HP, Gorlin RJ, Anderson VE (1968) Pycnodysostosis: clinical and genetic considerations. Am J Dis Child 116:70-77
18. Vaux DL, Cory S, Adams JM (1988) Bcl-2 gene promotes hemopoietic cell survival and cooperates with c-myc to immortalize Pre-B cells. Nature 335:440-442