CURRICULUM VITAE

NAME: Pauline Hsiao Yen (蕭百忍)

OFFICE ADDRESS:

Institute of Biomedical Sciences

Academia Sinica, Taipei, Taiwan

Tel: 02-2652-3912

Fax: 02-2782-9224

E-mail:

EDUCATION:

l969 B.Sc., Chemistry

National Taiwan University, Taipei, Taiwan

l973 Ph.D., Biochemistry

University of California at Berkeley, Berkeley, CA 94720

l973-l976 Postdoctoral Training, Molecular Biology

California Institute of Technology, Pasadena, CA 9ll25

PROFESSIONAL EXPERIENCE:

l976-l980 Associate Chemist, Division of Chemistry and Chemical Engineering

California Institute of Technology

l980-l98l Senior Research Fellow, Division of Medical Genetics,

Harbor-UCLA Medical Center, UCLA School of Medicine

l98l-1987 Adjunct Assistant Professor of Pediatrics, Division of Medical Genetics Harbor-UCLA Medical Center, UCLA School of Medicine

1987-1993 Adjunct Associate Professor of Pediatrics, Division of Medical Genetics

Harbor-UCLA Medical Center, UCLA School of Medicine

1987-1992 Senior Associate, Howard Hughes Medical Institute

Harbor-UCLA Medical Center, UCLA School of Medicine

1993 Certified by the American Board of Medical Genetics in Clinical Molecular Genetics

1993-2002 Adjunct Professor of Pediatrics, Division of Medical Genetics,

Harbor-UCLA Medical Center, UCLA School of Medicine

2003-  Research Fellow, Institute of Biomedical Sciences

Academia Sinica, Taipei, Taiwan

2006- Deputy Director, Institute of Biomedical Sciences

Academia Sinica, Taipei, Taiwan

PUBLICATIONS:

Research Papers

1. Yen, P.H. and Ballou, C.E. Composition of a specific intercellular agglutination factor. J. Biol. Chem. 248:83l6-83l8, l973.

2. Yen, P.H. and Ballou, C.E. Structure and immunochemistry of Hansenula wingei Y-2340 mannan. Biochem. l3:2420-2427, l974.

3. Yen, P.H. and Ballou, C.E. Partial characterization of the sexual agglutination factor from Hansenula wingei Y-2340 type 5 cells. Biochem. l3:2428-2437, l974.

4. Hershey, N.D., Conrad, S.E., Sodja, A., Yen, P.H., Cohen, M., Davidson, N., Ilgen, C. and Carbon, J. The sequence arrangement of Drosophila melanogaster 5S DNA cloned in recombinant plasmids. Cell ll:585-598, l977.

5. Yen, P.H., Sodja, A., Cohen, M., Conrad, S.E., Wu, M., Davidson, N. and Ilgen, C. Sequence arrangement of tRNA genes on a fragment of Drosophila melanogaster DNA cloned in E. coli. Cell ll:763-777, l977.

6. Broker, T.R., Angerer, L.M., Yen, P.H., Hershey, N.D. and Davidson, N. Electron microscopic visualization of tRNA genes with ferritin-avidin:biotin labels. Nucl. Acids Res. 5:363-384, l978.

7. Yen, P.H. and Davidson, N. The gross anatomy of a tRNA gene cluster at region 42A of the D. melanogaster chromosome. Cell 22:l37-l48, l980.

8. Venolia, L., Gartler, S.M., Wassman, E.R., Yen, P., Mohandas, T. and Shapiro, L.J. Transformation with DNA from 5-azacytidine-reactivated X-chromosomes. Proc. Natl. Acad. Sci. USA 79:2352-2354, l982.

9. Yen, P.H., Patel, P., Chinault, A.C., Mohandas, T. and Shapiro, L.J. Differential methylation of HPRT genes on active and inactive human X chromosomes. Proc. Natl. Acad. Sci. USA 8l:l759-l763, l984.

l0. Yen, P.H., Marsh, B., Mohandas, T.K. and Shapiro, L.J. Isolation of genomic clones homologous to transcribed sequences from human X chromosome. Som. Cell Mol. Genet. l0:56l-57l, l984.

11. Yen, P.H., Mohandas, T. and Shapiro, L.J. Stability of DNA methylation of the human hypoxanthine phosphoribosyltransferase gene. Som. Cell Mol. Genet. l2:l53-l6l, l986.

12. Mohandas, T., Geller, R.L., Yen, P.H., Rosendorff, J., Bernstein, R., Yoshida, A. and Shapiro, L.J. Cytogenetic and molecular studies on a recombinant human X chromosome: Implications for the spreading of X chromosome inactivation. Proc. Natl. Acad. Sci. USA 84: 4954-4958, 1987.

13. Yen, P.H., Allen, E. Marsh, B., Mohandas, T., Wang, N., Taggart, R.T. and Shapiro, L.J. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell 49:443-454, 1987.

14. Salido, E.C., Yen, P.H., Shapiro, L.J., Fisher, D.A. and Barajas, L.: In situ hybridization of nerve growth factor mRNA in the mouse submandibular gland. Lab.Invest. 59:625-630, 1988.

15. Yen, P.H., Marsh, B., Allen, E., Tsai, S.P., Ellison, J., Connolly, L., Neiswanger, K. and Shapiro, L.J. The human X-linked steroid sulfatase gene and a Y encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 55:1123- 1135, 1988.

16. Mohandas, T.K., Passage, M.B., Williams, J.W., Sparkes, R.S., Yen, P.H. and Shapiro, L.J. X-chromosome inactivation in cultured cells from human chorionic villi. Som. Cell Mol. Genet. 15:131-136, 1989.

17. Salido, E.C., Yen, P.H., Shapiro, L.J., Fisher, D.A. and Barajas, L. In situ hybridization of prepro-epidermal growth factor mRNA in the mouse kidney. Am. J. Physiol. 256:F632-F638, 1989

18. Shapiro, L.J., Yen, P., Pomerantz, D., Martin, E., Rolewic, L. and Mohandas, T. Molecular studies of deletions at the human steroid sulfatase locus. Proc. Natl. Acad. Sci. USA 86:8477-8481, 1989.

19. Mohandas, T.K., Stern, H.J., Meeker, C.A., Passage, M.B., Muller, U., Page, D.C., Yen, P.H. and Shapiro, L.J. Steroid sulfatase gene in XX males. Am. J. Hum. Genet. 46:369-376, 1990.

20. Salido, E.C., Yen, P.H., Barajas, L. and Shapiro, L.J. Steroid sulfatase expression in human placenta: immunocytochemistry and in situ hybridization study. J. Clin. Endocrinol. Metab. 70:1564-1567, 1990.

21. Yen, P.H., Li, X.-M., Tsai, S.-P., Johnson, C., Mohandas, T. and Shapiro L.J. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61:603-610, 1990.

22. Li, X.-M., Yen, P., Mohandas, T. and Shapiro, L.J. A long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus. Nucl. Acids. Res. 18:2783-2788, 1990.

23. Ellis N., Yen, P., Neiswanger, K., Shapiro, L.J. and Goodfellow, P.N. Evolution of the pseudoautosomal boundary in old world monkeys and great apes. Cell 63:977-986, 1990.

24. Wang, J-C.C., Passage, M.B., Yen, P.H., Shapiro, L.J. and Mohandas, T.K. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am. J. Hum. Genet. 48:1069-1074, 1991.

25. Johnson, C.L., Charmley, P., Yen, P.H. and Shapiro L.J. A multipoint linkage map of the distal short arm of the human X chromosome. Am. J. Hum. Genet. 49:261-266, 1991.

26. Yen, P.H., Tsai, S.-P., Wenger, S. L., Steele, M.W., Mohandas, T.K. and Shapiro, L.J. X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. Proc. Natl. Acad. Sci. USA 88:8944-8948, 1991.

27. Carrozzo, R., Ellison, J., Yen, P., Taillon-Miller, P., Brownstein, B.H., Persico, G., Ballabio, A. and Shapiro, L. Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene. Genomics 12:7-12, 1992.

28. Salido, E.C., Yen, P.H., Koprivnikar, K., Yu, L-C. and Shapiro, L.J. The human enamel protein gene amelogenin is expressed from both the X and Y chromosomes. Am. J. Hum. Genet. 50:303-316, 1992.

29. Li, X-M., Yen, P.H. and Shapiro, L.J. Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome. Nucl. Acids Res. 20:1117-1122, 1992.

30. Bernatowicz, L.F., Li, X-M., Carrozzo, R., Ballabio, A., Mohandas, T., Yen, P.H. and Shapiro, L.J. Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. Genomics 13:892-893, 1992.

31. Wang, J.C., Passage, M.B., Ellison, J., Becker, M.A., Yen, P.H., Shapiro, L.J. and Mohandas, T.K. Physical mapping of loci in the distal half of the short arm of the human X chromosome: Implication for the spreading of X-chromosome inactivation. Somatic Cell Mol. Genet. 18:195-200, 1992.

32. Yen, P.H., Ellison, J., Salido, E.C., Mohandas, T. and Shapiro, L. Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. Hum. Mol. Genet. 1:47-52, 1992.

33. Ellison, J., Passage, M., Yu, L-C., Yen, P., Mohandas, T.K., and Shapiro, L. Directed isolation of human genes that escape X inactivation. Som. Cell Mol. Genet. 18:259-268, 1992.

34. Mohandas, T.K., Speed, R.M., Passage, M.B., Yen, P.H., Chandley, A.C. and Shapiro, L.J. Meiotic studies in a man with a deletion of distal Xp: role of the pseudoautosomal region in sex chromosome pairing during male meiosis. Am. J. Hum. Genet. 51:526-533, 1992.

35. Salido, E.C., Yen, P.H., Mohandas, T.K., and Shapiro, L.J. Expression of the X-inactivation- associated gene XIST during spermatogenesis. Nature Genet. 2:196-199, 1992

36. Ellison, J.W., Ramos, C., Yen, P.H., and Shapiro, L.J. Structure and expression of the human pseudoautosomal gene XE7. Hum. Mol. Genet. 1:691-696, 1992.

37. Salido, E.C., Passage, M.B., Yen, P.H., Shapiro, L.J., and Mohandas, T.K. An evaluation of the inactive mouse X-chromosome in somatic cell hybrids. Som. Cell Mol. Genet. 19:65-71, 1993.

38. Lebo, R.V., Lynch, E.D., Golbus, M.S., Flandermeyer, R.R., Yen, P.H., and Shapiro, L.J. Prenatal in situ hybridization test for deleted steroid sulfatase gene. Am. J. Med. Genet. 46:652-658, 1993.

39. Lee, W-C., Ferrero, G.B., Chinault, A.C., Yen, P.H., and Ballabio, A. A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. Genomics 18:1-6, 1993.

40. Wu, J., Ellison, J., Salido, E., Yen, P., Mohandas, T., and Shapiro, L.J. Isolation and

characterization of XE169, a novel human gene that escapes X-inactivation. Hum. Mol. Genet. 3:153-160, 1994.

41. Yen, P.H., Ferrero, G.B., Chinault, A.C., Mohandas, T. and Ballabio, A. Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency. Hum. Mutation 4:76-78, 1994.

42. Yen, P.H., Salido, E., Shapiro, L., and Mohandas, T. An Eco RI RFLP at the D6S509E locus. Hum. Mol. Genet. 3:388, 1994.

43. Yen, P. and Lin, H. Dinucleotide repeat polymorphism in the 3' untranslated region of the GS2 gene (DXS1283E). Hum. Mol. Genet. 3:388, 1994.

44. Lee, W-C, Salido, E. and Yen, P.H. Isolation of a new gene GS2 (DXS1283E) from a CpG island between STS and KAL on Xp22.3. Genomics 22:372-376, 1994.

45. Wu, J., Salido, E., Yen, P., Mohandas, T., Heng, H.H.Q., Tsui, L-C., Park, J, Chapman, V.M. and Shapiro, L.J. The murine Xe169 gene escapes X-inactivation. Nature Genet. 7:491-496, 1994.

46. Glass, I.A., Passage, M., Bernatowicz, L., Salido, E.C., Mohandas, T., Yen, P.H. and Shapiro, L.J. Generation of sequence tagged sites from Xp22.3 by isolating common Alu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments. Hum. Genet. 97:604-610, 1996.

47. Najmabadi, H., Huang, V., Yen, P., Subbarao, M.N., Bhasin, D., Banaag, L., Naseeruddin, S., de Kretser, D.M., Baker, H.W.G., McLachlan, R.I., Loveland, K.A., and Bhasin, S. Substantial prevalence of microdeletions of the Y chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence tagged site (STS)-based mapping strategy. J. Clin. Endocrinol. Metab. 81:1347-1352. 1996.

48. Li, X.-M., Alperin, E.S., Salido, E., Gong, Y., Yen, P. and Shapiro. L.J. Characterization of the promoter region of human steroid sulfatase gene: a gene which escapes X inactivation. Somat. Cell Mol. Genet. 22:105-117, 1996.

49. Li, X.M., Salido, E.C., Gong, Y., Kitada, K., Serikawa, T., Yen, P.H. and Shapiro, L.J. Cloning of the rat steroid sulfatase gene (Sts), an X-linked gene outside the pseudoautosomal region which undergoes X inactivation. Mammal. Genome 7:420-424, 1996.

50. Salido, E.C., Li, X.M., Yen, P.H., Martin, N., Mohandas, T.K. and Shapiro, L.J. Cloning and expression of the mouse pseudoautosomal steroid sulfatase gene (Sts). Nature Genet. 13:83-86, 1996.

51. Najmabadi, H., Chai, N., Kapali, A., Subbarao, M.N., Bhasin, D., Woodhouse E., Yen, P. and Bhasin, S. Genomic structure of a Y-specific RNA binding motif (RBM) containing gene: a putative candidate for a subset of male infertility. J. Clin. Endocrinol. Metab. 81:2159-2164, 1996.

52. Yen, P.H., Chai, N.N. and Salido, E.C. The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum. Mol. Genet. 5:2013-2017, 1996.

53. Chai, N.N., Phillips, A., Fernandez, A. and Yen, P.H. A putative human male infertility gene DAZLA: genomic structure and methylation status. Mol. Hum. Reprod. 3:705-708, 1997.

54. Gläser, B., Grutzner, F., Taylor, K., Schiebel, K., Meroni, G., Tsioupra, K., Pasantes, J., Reitschel, W., Toder, R., Willmann, U., Zeitler, S., Yen, P., Ballabio, A., Rappold, G., and Schempp, W. Comparative mapping of Xp22 genes in hominoids - evolutionary linear instability of their Y homologs. Chrom. Res. 5:167-176, 1997.

55. Chai, N.N., Salido, E.C. and Yen, P.H. Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics 45:355-361, 1997.

56. Yen, P.H., Chai, N.N. and Salido, E.C. The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions. Mammal. Genome 8:756-759, 1997.

57. Chai, N.N., Zhou, H., Hernandez, J., Najmabadi, H., Bhasin, S., and Yen, P.H. Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. Genomics 49:283-289, 1998..

58. Gläser, B., Yen, P.H., and Schempp, W. "Fiber-FISH" unravels apparently seven DAZ genes or pseudogenes clustered within a Y chromosome region frequently deleted in azoospermic males. Chrom. Res. 6:1-6, 1998.

59. Yen, P.H. A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics 54:5-12, 1998.

60. Tsui, S., Dai, T., Warren, S.T., Salido, E.C., and Yen, P.H. Association of the infertility factor DAZL1 with actively translating polyribosomes. Biol. Reprod. 62:1655-1660, 2000.

61. Tsui, S., Dai, T., Roettger, S., Schempp, W., Salido, E.C., and Yen, P.H. Identification of two novel proteins that interact with germ-cell specific RNA-binding proteins DAZ and DAZL1. Genomics, 65:266-273, 2000.

62. Moro, E., Ferlin, A, Yen, P.H., Franchi, P.G., Palka, G., and Foresta C. Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. J. Clin. Endocrinol. Metab. 85:4069-4073, 2000

63. Roettger, S., Pasantes, J.J., Baldermann, C., Reichl, E., Yen, P.H., Hansmann, I., Schempp, W. Familial mosaicism of del(Y) and inv del(Y). Cytogenet. Cell Genet. 91:208-211, 2000.

64. Lue, Y., Rao, P.N., Sinha Hikim, A.P., Im, M., Salameh, W, Yen, P.H., Wang, C., and Swerdloff, R.S. Progressive loss of germ cells by apoptosis in XXY male mice: An experimental model for Klinefelter Syndrome. Endocrinology 142:1461-1470, 2001.

65. Dai, T., Vera, Y., Salido, E.C., and Yen, P.H. Characterization of the mouse Dazap1 gene encoding an RNA-binding protein that interacts with infertility factors DAZ and DAZL. BMC Genomics 2:6, 2001.

66.  Vera, Y., Dai, T., Lue, Y., Sinha-Hikim, A.P., Salido, E.C., Swerdloff, R.S., and Yen, P.H.

DAZAP1, a DAZ associated protein, shuttles between nucleus and cytoplasm during normal germ cell maturation. J. Andrology 23:622-628, 2002.

67.  Roettger, S., Yen, P.H., and Schempp, W. A fiber-FISH contig spanning the non-recombining region of the human Y chromosome. Chrom. Res. 10:621-635, 2002.