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1999 Fiscal Year Final Research Report Summary

Study on the sex differentiation relation genes and their mutual regulation

Research Project

Project/Area Number 10671509
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Obstetrics and gynecology
Research InstitutionKitasato University (1999)
Hokkaido University (1998)

Principal Investigator

HOSHI Nobuhiko  Kitasato Univerisity, School of Veterinary Medicine and Animal Sciences, Associate Professor, 獣医畜産学部, 助教授 (10209223)

Co-Investigator(Kenkyū-buntansha) FUJIMOTO Seiichiro  Hokkaido Univerisity, School of Medicine, Professor, 医学部, 教授 (60001898)
Project Period (FY) 1998 – 1999
KeywordsSex differentiation anomaly / Sex determination / Sex differentiation / SRY / TDF / Cytogenetics and molecular genetics / Mosaicisms / Chimeras
Research Abstract

In a total of 40 individuals from 20 cases (25 samples from 11 cases of phenotypic females including 3 Turner's syndrome, and 15 samples from 9 cases of phenotypic males) under the informed consent, which was presumed as sex differentiation anomaly by clinical and cytogenetic findings, peripheral blood, cord blood, skin, gonad, buccal cells, born marrow, amniotic fluid and placental chorionic villi were examined by FISH, Southern blot hybridization, PCR, PCR-RFLP, PCR-SSCP, PCR-CFLP and direct DNA sequencing for X (3 loci) and Y chromosomes (27 loci), DAZ, DAZLA which we previously identified on chromosome 3p25. Marker chromosomes were demonstrated that 2 cases were derived from X and 7 were derived from Y by using G, Q banding and FISH. Among the samples analyzed, a total of 15 cases including of these 7 cases from Y, 3 cases of 45,X/46,XY, 2 cases of gonadoblastoma (XX, XY), 2 cases of ambiguous external genitalia (XX, XY) and 1 case of small Y, a case of ovotestis with 46,XX (periph … More eral blood and both right and left gonads), and XX male with hypospadias and cryptorchild testis (peripheral blood) were found any Y contents. A case of monozygotic twins of discordant sex both with 47,X,idic(Yp)x2/45,X/46,X,idic(Yp) mosaicism was demonstrated to lack from Yq11.2 to Yq terminal. A case of dizygotic twins of discordant sex was revealed to be blood chimerism. In 2 cases of 46,X,+mar, the markers were demonstrated derived from a Y chromosome including p terminal to q11.23 and paracentric inversion in the remained Y long arm, and I(Y)(p10) individually. Five cases of phenotypic female with 46,X,+mar, mosaicism of 45,X cell line were found in several tissue including gonads. No deletion and mutation were demonstrated in SRY positive cases. Available evidence suggests that the DAZLA gene is a participant in human oogenesis (Mol. Hum. Reprod., 1999). Furthermore, we designated loss of sex chromosome (aneuploidy) accumulate genetic mutation,
The present report illustrates that "sex determination" and "sex differentiation" are depend upon SRY gene expression in relation to tissue limited mosaicism, and the importance of other gene, especially in X chromosome. Less

  • Research Products

    (42 results)

All Other

All Publications (42 results)

  • [Publications] Hoshi, N.: "Chromosomal analysis in 894 induced abortuses from women of advanced maternal age in relation to gestational weeks and fetal sex ratio."J. Obstet. Gynaecol. Res.. 23. 1-7 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hoshi, N.: "Seminoma in a postmenopausal woman with a Y:15 translocation in peripheral blood lymphocytes, and at(Y:15) 45, X Turner mosaic pattern in skin fibroblasts."J. Med. Genet.. 35. 852-856 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hoshi, N.: "Prenatal identification of mos 45,X/46,X +mar in a normal male baby by cytogenetic and molecular analysis."Prenat. Diagn.. 18. 1316-1322 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hoshi, N.: "Recent trends in the prevalence of Down syndrome in Japan, 1980-1997"Am. J. Med. Genet.. 84. 340-345 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hoshi, N.: "Maternal serum maarkers in Japanese women with Down syndrome fetuses with and without morphological abnormalities."Prenat. Diagn.. (in press). (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 星信彦: "産婦人科領域における性分化異常症の細胞・分子遺伝学的解析"性差医学. 5. 70-77 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 星信彦: "性分化のOverview 1.最近のトピック"臨床婦人科産科. 53. 10-19 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 星信彦: "先天形態異常の染色体.先天形態異常をめぐって"産科と婦人科. 66. 984-900 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hoshi, N.: "Existence of human DAZLA protein in the cytoplasm of human ocytes."Mol. Hum. Reprod.. 5. 495-497 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hand. Y.: "Tubal pregnancy in a unicornuate a unicornuate uterus with rudimentary horn: a case report."Fertil. Steril.. 72. 354-356 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Uehara, S.: "Risk of recurrence of fetal chromosome aberrations: Analysis of trisomy 21, trisomy 18, trisomy 13 and 45, X in 1076 Japanese mothers."J. Obstet. Gynaecol. Res.. 25. 373-379 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Koyama, N.: "Anueploidy of sex chromosomes in basal cell carcinoma: its clonality and involvement in the development of carcinogenesis."Int. J. Oncol.. 16. 15-23 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sugawara, T.: "PCR diagnosis of X-linked ichthyosis: identification of a novel mutation(E560P) of the steroid sulfatase gene."Hum. Mutat.. 15. 296 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kishida, T.: "The efficacy of maternal serum screening in the prenatal detection of fetal chromosome abnormalities in Japanese women."Fetal Diagn. Therapy. (in press). (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 半田康: "ターナー核型を含むモザイクを有し異なる性分化を発現した一卵性双胎の一症例"周産期医学. (in press). (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hoshi, N.: "Genetics, Health and Disease."In: Singh JR(Ed).. 200 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 星信彦: "産婦人科学(加藤宏一、西谷巌ら編)"ヘルス出版、東京. 636 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sudo, S.: "Ovarian Function Research: Present and Future"Ares Serono Symposia, Roma. 411 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Sagawa, T.: "Ovarian Function Research: Present and Future"Ares Serono Symposia, Roma. 411 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 山田秀人: "産婦人科学(加藤宏一、西谷巌ら編)"ヘルス出版、東京. 636 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 山田秀人: "産婦人科学(加藤宏一、西谷巌ら編)"ヘルス出版、東京. 636 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Hoshi, N., et al.: "Chromosomal analysis in 894 induced abortuses from women of advanced maternal age in relation to gestational weeks and fetal sex ratio."J. Obstet. Gynaecol. Res.. 23. 1-7 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N., et al.: "Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes, and a t(Y;l5) / 45,X Turner mosaic pattern in skin fibroblasts."J.Med.Genet.. 35. 852-856 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N., et al.: "Prenatal identification of mos 45,X/46,X,+mar in a normal male baby by cytogenetic and molecular analysis."Prenat, Diagn.. 18. 1316-1322 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N., et al.: "Recent tends in the prevalence of Down syndrome in Japan, 1980-1997"Am.J.Med.Genet.. 84. 340-345 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N., et al.: "Maternal serum markers in Japanese women with Down syndrome fetuses with and without morphological abnormalities"Prenat, Diagn.. (in press). (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N., et al.: "Molecularcytogenetic investigation on sex differentiation anomalies in the field of obstetrics and gynecology."Sex Difference and Similarity. 5. 70-77 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N., et al.: "Overview of sex differentiation. 1. Recent topics."Clin. Gynecol. Obstet.. 53. 10-19 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N.& Fujimoto, S.: "Congenital morphological abnormalites and chromosomes"Obstet. Gynecol.. 66. 894-900 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Nishi, S, et al.: "Existence of human DAZLA protein in the cytoplasm of human oocytes."Mol. Hum. Reprod.. 5. 495-497 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Handa, Y., et al.: "Tubal pregnancy in a unicornuate uterus with rudimentary horn: a case report."Fertil. Steril.. 72. 354-356 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Uehara, S., et al.: "Risk of recurrence of fetal chromosome aberrations: Analysis of trisomy 21, trisomy 18, trisomy 13 and 45,X in 1076 Japanese mothers."J. Obstet. Gynaecol. Res.. 25. 373-379 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Koyama, N., et al.: "Aneuploidy of sex chromosomes in basal cell carcinoma: its clonality and involvement in the development of carcinogenesis."Int.J.Oncol.. 16. 15-23 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sugawara, T., et al.: "PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene"Hum.Mutat.. 15. 296 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kishida, T., et al.: "The efficacy of maternal serum screening in the prenatal detection of fetal chromosome abnormalities in Japanese women"Fetal Diagn. Therapy. (in press). (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Handa Y., et al.: "Molecular and cytogenetic study on a case of monozygotic twins of discordant sex both with 47,X,idic(Yp)x2 / 45,X / 46,X,idic(Yp ) mosaicism."Perinat. Med.. (in press). (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N., et al.: "Molecular cytogenetic aspects of sex differentiation anomalies in the field of obstetrics and gynecology."Singh .JR (Ed.). Genetics, Health and Disease. (in press). (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hoshi, N., et al.: "Chapter VII. Gynecological Disorder. II. Anomalies of sex differentiation, development and maturation. A. Anomalies of sex differentiation, development and maturation process. B. Aberration of sex matulation."Obstetrics a& Gynecology (Ed.Kato, K.) Health Publishing, Tokyo. 393-401 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sudo, S., et al.: "Genetic and fuctional analyses of polymorphisms in the human follicle-stimulating hormone receptor."Strauss, J.F. III, A.J.W. Hsueh, Fujimoto, S. (Eds.) Ovarian Function Research: Present and Future. Ares Serono Symposia, Rome. 331-336 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sagawa, T., et al.: "Familial Ovarian Cancer in Japanese Women."Strauss, J.F. III, A.J.W. Hsueh, Fujimoto, S. (Eds.) Ovarian Function Research: Present and Future. Ares Serono Symposia, Rome. 393-399 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yamada, H., et al.: "Chapter I. Development & physiology. 1. Development of gonad and genitalia. A. Development of gonad and genitalia."Obstetrics a& Gynecology (Ed.Kato, K.) Health Publishing, Tokyo. 6-11 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yamada, H., et al.: "Chapter III. Obstetrics-Abnormal part. V. Neonatal Disorder, G. Congenital anomalies"Obstetrics a& Gynecology (Ed.Kato, K.) Health Publishing, Tokyo. 273-281 (1999)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2001-10-23  

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