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• W2741365732 abstract "Christine Petit,’ Albert de la Chapelle,t Jacqueline Levilliers;’ Sylvia CasGllo,* Bernard No&§ and Jean Weissenbach’ * Unit@ de Recombinaison et Expression Gn Jacobs and Strong, 1959). This dominant effect is thought to result from the action of a gene, termed TDF for “testis determining factor” (Shows et al., 1984), which is carried by the mammalian Y chromosome. In humans, recent analyses of various sex chromosome anomalies have al- lowed TDF to be assigned to the subterminal part of distal Yp (Vergnaud et al., 1986; Affara et al., 1986; Miiller et al., 1986a; Disteche et al., 1986; Page, 1986). Progress in this mapping relies largely on the analysis of numerous cases of XX maleness, the most frequent sex reversal syndrome In man. XX males develop testes in the absence of a cytogenetically detectable Y chromosome and have an apparently normal male phenotype but are sterile, with characteristically small and azoospermic testes. Most cases of XX maleness are sporadic (de la Chapelle, 1981). Among the hypotheses proposed to account for XX maleness, one consists of an abnormal interchange be- tween distal parts of the short arms X Y chromo- somes at the paternal meiosis (Ferguson-Smith, 1966). One set of observations compatible with this hypothesis is as follows: first, Y-specific DNA detected in a high proportion of human XX males (GuellaBn et al., 1984; Pageetal., 1985;Vergnaudetal., 1986;Affaraetal., 1986; Miiller et al., 1986a, 1986b; Page 1986), who are desig- nated Y(+)XX males; and second, XX males possess one X chromosome from each parent, as shown by X-linked re- striction fragment length polymorphisms (RFLP) Page and de la Chapelle, 1984). Another category of results pro- vides more direct support for the interchange hypothesis: first, in many families, the XX male proband does not ex- press his father’s Xg allele (reviewed by de la Chapelle, 1981). which may have been lost from the paternal X or in- activated as the result of TDF transfer; second, in one case (de la Chapelle et al., 1984b), this loss of Xg expres- sion was associated with the expression of the Y-linked al- lele for 12E7, a gene carried by the X and Y chromosomes; and third, using chromosomal in situ hybridization, Y-spe- cific DNA was detected at the short arm telomere of one of the X chromosomes of XX male patients (Andersson et al., 1986). However, these results do not show that the presence of Y-specific DNA at the distal end an X chro- mosome actually results from an interchange involving the terminal part of both paternal sex chromosomes. An abnormal X-Y interchange including TDF may be viewed as an accident related to the normal obligatory X-Y crossing-over that occurs at male meiosis. This crossing- over takes place between strictly homologous loci at a sin- gle but variable location in the terminal part of short arms of the sex chromosomes, i.e., pseudoautosomal region (Rouyer et al., 1986a). At normal male meiosis, all loci distal to the recombination point are exchanged be- tween the two sex chromosomes, whereas the more prox- imal ones retain their original sex linkage. In line with this property, several pseudoautosomal loci have been mapped, revealing an increasing gradient of sex linkage from the short arm telomere towards centromere (Rouyer et al., 1986a, 1986b; Goodfellow 1986). Most mapping studies localize TDF proximal and very close to the pseudoautosomal region (Vergnaud et al., 1986; Affara al., Mtiller 1986a; Page, 1986). Given the features of the normal X-Y crossing-over, the X-Y interchange model for XX maleness (Ferguson- Smith, 1966) can regarded as an abnormal exchange initiated in a region proximal to TDF and extending to the telomere. Such an exchange would result in the transfer of the whole terminal part of the paternal Y chromosome with the concomitant loss of a terminal part of the X chro- mosome (terminal model). In this model, the breakpoint on the X may be either proximal to or within pseu- doautosomal region. Depending on the location of this breakpoint, the proximal part of pseudoautosomal re- gion of the paternal X chromosome will either remain or" @default.
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• W2741365732 date "1987-01-01" @default.
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• W2741365732 title "Accounts for Most but Not All Cases of Human XX Maleness" @default.
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