Alternative titles; symbols
Other entities represented in this entry:
This marker for male sexual differentiation was first found in association with the heterogametic (female) sex in the banded krait (a venomous snake of India). Highly conserved in evolution, it shows preferential association with the heterogametic sex. BKM probes were useful in Sxr ('sex-reversal') in mice (McLaren et al., 1984).
Kiel-Metzger and Erickson (1984) assigned BKM homologous sequences on 2 mouse autosomes (in addition to the Y). One was on proximal 17 in a region where deletions can cause hermaphroditism (Washburn and Eicher, 1983). (The other was on mouse 4.) Extending these in situ hybridization studies to man, Kiel-Metzger et al. (1985) found, surprisingly, no BKM sequences on the Y chromosome. They found the largest concentration on 6q21 (BKMA1); human chromosome 6 is homologous to mouse chromosome 17. A lesser concentration was found at 11q13-q14 (BKMA2). On the X chromosome, a minor aggregation at Xp21 and a major one at Xq21 were found. The latter corresponds approximately to the site of the postulated human X-inactivation center (314670), and females with balanced X-autosome translocations involving a breakpoint at Xq21 frequently have amenorrhea, hypogonadism, and streak gonads (Summitt et al., 1978). See Arnemann et al. (1986) for information of BKM sequences on Y. DNA sequence analysis had revealed simple repeats of GATA and GACA to be responsible for sex-specific hybridization.
Singh and Jones (1986) found BKM sequences to be polymorphic and to be present in all small acrocentric human chromosomes including the Y. Australian aborigines appeared to have a characteristic pattern of polymorphism.
Arnemann, J., Jakubiczka, S., Schmidtke, J., Schafer, R., Epplen, J. T. Clustered GATA repeats (Bkm sequences) on the human Y chromosome. Hum. Genet. 73: 301-303, 1986. [PubMed: 3017838] [Full Text: https://doi.org/10.1007/BF00279090]
Kiel-Metzger, K., Erickson, R. P. Regional localization of sex-specific Bkm-related sequences on proximal chromosome 17 of mice. Nature 310: 579-581, 1984. [PubMed: 6462245] [Full Text: https://doi.org/10.1038/310579a0]
Kiel-Metzger, K., Warren, G., Wilson, G. N., Erickson, R. P. Evidence that the human Y chromosome does not contain clustered DNA sequences (BKM) associated with heterogametic sex determination in other vertebrates. New Eng. J. Med. 313: 242-245, 1985. [PubMed: 4010726] [Full Text: https://doi.org/10.1056/NEJM198507253130406]
McLaren, A., Simpson, E., Tomonari, K., Chandler, P., Hogg, H. Male sexual differentiation in mice lacking H-Y antigen. Nature 312: 552-555, 1984. [PubMed: 6542174] [Full Text: https://doi.org/10.1038/312552a0]
Singh, L., Jones, K. W. Bkm sequences are polymorphic in humans and are clustered in pericentric regions of various acrocentric chromosomes including the Y. Hum. Genet. 73: 304-308, 1986. [PubMed: 3017839] [Full Text: https://doi.org/10.1007/BF00279091]
Summitt, R. L., Tipton, R. E., Wilroy, R. S., Jr., Martens, P. R., Phelan, J. P. X-autosome translocations: a review. Birth Defects Orig. Art. Ser. 14(6C): 219-247, 1978. [PubMed: 365268]
Washburn, L. L., Eicher, E. M. Sex reversal in XY mice caused by dominant mutation on chromosome 17. Nature 303: 338-340, 1983. [PubMed: 6855886] [Full Text: https://doi.org/10.1038/303338a0]