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Xq28

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Xq28 is a chromosome band and genetic marker situated at the tip of the X chromosome which has been studied since at least 1980.[1] The band contains three distinct regions, totaling about 8 Mb of genetic information.[2] Xq28 contains the 12 genes of the melanoma-associated antigen (MAGE) family,[3] of which MAGEA11 has been identified as a coregulator for the androgen receptor.[4] Duplications of certain genes within Xq28, namely MECP2 and IRAK1, have been associated with phenotypes including anxiety and autism.[5]

The marker came to the public eye in 1993 when studies by Dean Hamer and others indicated a link between the Xq28 marker and male homosexuality,[6] but the original study's results have been disputed.[7]

1993 study

The 1993 study by Hamer examined 114 families of gay men in Italy and found increased rates of homosexuality among maternal uncles and cousins, but not among paternal relatives. Genetic linkage was studied in 40 of the families, in which there were two gay brothers. A correlation to Xq28 and other microsatellite markers was found in approximately 64% of the cases. A similar study by the same team conducted in 1995, again based on Italian material corroborated these results, but failed to find a link to the Xq28 gene among homosexual females.[8]

1999 study

A further study of these results in 1999 disputed the results. Studying Canadian material consisting of 52 pairs of gay brothers, George Rice and others found no statistically significant linkage in alleles and haplotypes and concluded against an X-linked male homosexuality gene.[9]

When the disputing study was published in Science, Hamer responded by standing by his original results.[10]

See also

References

  1. ^ Pai, GS; Sprenkle, JA; Do, TT; Mareni, CE; Migeon, BR (1980). "Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation". Proceedings of the National Academy of Sciences of the United States of America. 77 (5): 2810–3. doi:10.1073/pnas.77.5.2810. PMC 349494. PMID 6930669.
  2. ^ De Sario, Albertina; Geigl, Eva-Maria; Palmieri, Giuseppe; d'Urso, Michele; Bernardi, Giorgio (1996). "A Compositional Map of Human Chromosome Band Xq28". Proceedings of the National Academy of Sciences of the United States of America. 93 (3): 1298–302. Bibcode:1996PNAS...93.1298D. doi:10.1073/pnas.93.3.1298. JSTOR 38791. PMC 40074. PMID 8577758.
  3. ^ Rogner, UC; Wilke, K; Steck, E; Korn, B; Poustka, A (1995). "The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28". Genomics. 29 (3): 725–31. doi:10.1006/geno.1995.9945. PMID 8575766.
  4. ^ Wilson, EM (2010). "Androgen receptor molecular biology and potential targets in prostate cancer". Therapeutic advances in urology. 2 (3): 105–17. doi:10.1177/1756287210372380. PMC 3126091. PMID 21789088.
  5. ^ Samaco, RC; Mandel-Brehm, C; McGraw, CM; Shaw, CA; McGill, BE; Zoghbi, HY (2012). "Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome". Nature genetics. doi:10.1038/ng.1066. PMID 22231481.
  6. ^ Hamer, D.; Hu, S; Magnuson, V.; Hu, N; Pattatucci, A. (1993). "A linkage between DNA markers on the X chromosome and male sexual orientation". Science. 261 (5119): 321–7. doi:10.1126/science.8332896. PMID 8332896.
  7. ^ Doubt cast on 'gay gene', April 23, 1999, BBC News
  8. ^ Hu, Stella; Pattatucci, Angela M. L.; Patterson, Chavis; Li, Lin; Fulker, David W.; Cherny, Stacey S.; Kruglyak, Leonid; Hamer, Dean H. (1995). "Linkage between sexual orientation and chromosome Xq28 in males but not in females". Nature Genetics. 11 (3): 248–56. doi:10.1038/ng1195-248. PMID 7581447.
  9. ^ Rice, G.; Anderson, C; Risch, N; Ebers, G (1999). "Male Homosexuality: Absence of Linkage to Microsatellite Markers at Xq28". Science. 284 (5414): 665–7. doi:10.1126/science.284.5414.665. PMID 10213693.
  10. ^ Wickelgren, I. (1999). "Discovery of 'Gay Gene' Questioned". Science. 284 (5414): 571. doi:10.1126/science.284.5414.571. PMID 10328731.
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