Summary
Eight X autosome translocations were studied with replication banding to localize spreading of late replication into the autosomal segments. Partial spreading into the autosomal segment was seen in four translocations and no spreading of late replication was seen in four translocations. In those translocations with partial spreading of late replication into the autosomal segment, late replication did not always spread continuously from the X chromosome breakpoint throughout the autosome. Instead, it appeared to skip some bands and affect others. The data on the pattern of replication, taken to indicate also a spread of inactivation into these autosomal segments, correlated well with the clinical data in most cases and suggest that spreading of late replication is often incomplete and may be discontinuous.
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Camargo M, Cervenka J (1984) DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I. X-A translocation, rings, fragments, isochromosomes, and pseudo-isodicentrics. Hum Genet 67:37–47
Carpentier S, Rethoré MO, Lejeune J (1972) Trisomie partielle 7q par translocation familiale t(7;12)(q22;q24). Ann Genet (Paris) 15:283–286
Cattanach BM (1975) Control of chromosome inactivation. Annu Rev Genet 9:1–18
Comings DE (1974) The role of heterochromatin. In: Motulsky A, Lentz W, Ebling F (eds) Birth defects. Proceedings of the 4th International Conference. Excerpta medica, Amsterdam, pp 44–52
Couturier J, Dutrillaux B, Garber P, Raoal O, Croquette M, Fourlinnie J, Maillard E (1979) Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). Hum Genet 49:319–326
de la Chapelle A, Herva R, Koivisto M, Aula P (1981) A deletion of chromosome 22 can cause DiGeorge syndrome. Hum Genet 57:253–256
Disteche CM, Eicher EM, Latt SA (1979) Late replication in an X autosome translocation in the mouse: correlation with genetic inactivation and evidence for selective effects during embryogenesis. Proc Natl Acad Sci USA 76:5234–5238
Garrett JH, Finley SC, Finley WH (1975) Fetal loss and familial chromosomal translocations. Clin Genet 8:341–348
Gartler SM, Riggs AD (1983) Mammalian X chromosome inactivation. Annu Rev Genet 17:155–190
Goldman MA, Holmquist GP, Gray MC, Caston LA, Nag A (1984) Replication timing of genes and middle repetitive sequences. Science 224:686–692
Johnston PG, Cattanach BM (1981) Controlling elements in the mouse. IV. Evidence of nonrandom X inactivation. Genet Res 37:151–160
Keitges EA (1983) X autosome translocations in man studied with replication banding. Thesis, Indiana University, Indianapolis, IN
Korenberg JR, Therman E, Denniston C (1978) Hot spots and functional organization of human chromosomes. Hum Genet 43:13–22
Latt SA, Willard HF, Gerald PS (1976) BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma 57:135–153
Mattei MG, Matter JF, Ayme S, Giraud F (1982) X-Autosome translocations: cytogenetic characteristics and their consequences. Hum Genet 61:295–309
Mohandas T, Crandall BF, Sparkes RS, Passage MB, Sparkes MC (1981) Late replication studies in a human X/13 translocation: correlation with autosomal gene expression. Cytogenet Cell Genet 29:215–220
Mohandas T, Sparkes RS, Shapiro LS (1982) Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome. Am J Hum Genet 34:811–817
Novales MA, Fernandez-Novoa C, Hevia A, San Martin V, Galeva H (1982) Partial trisomy for the long arm of chromosome 7-case report and review. Hum Genet 62:378–381
Palmer CG, Poland C, Reed T, Kojetin J (1976) 11p trisomy. Hum Genet 31:219–225
Sanchez O, Yunis JJ (1974) The relationship between repetitive DNA and chromosomal bands in man. Chromosoma 48:191–202
Willard HF, Latt SA (1976) Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy. Am J Hum Genet 28:213–227
Yu CW, Byrd JR, Priest JH (1979) DNA replication patterns of structurally rearranged X chromosomes. Am J Hum Genet 31:117A
Yunis JJ (1976) High resolution banding of human chromosomes. Science 191:1268–1270
Yunis JJ, Kuo MT, Saunders GF (1977) Localization of sequences specifying messenger RNA to light-staining G-bands of human chromosomes. Chromosoma 61:335–344
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Keitges, E.A., Palmer, C.G. Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique. Hum Genet 72, 231–236 (1986). https://doi.org/10.1007/BF00291884
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DOI: https://doi.org/10.1007/BF00291884