X-Y translocations and sex differentiation

Seminars in Reproductive Medicine

Volumn 19, Issue 2, 2001, Pages 133-139

  McElreavey, K ^a   Cortes, L S ^a  

^a INSTITUT PASTEUR   (France)

Author keywords

Sex determination; Translocation; X chromosome; Y chromosome

Indexed keywords

TESTIS DETERMINING FACTOR;

CHROMOSOME STRUCTURE; CHROMOSOME TRANSLOCATION; CHROMOSOME XP; CHROMOSOME YP; DISOMY; GENE LOCUS; GENE SEQUENCE; GENETIC RECOMBINATION; GONAD DEVELOPMENT; HUMAN; KARYOTYPE 46,XX; REVIEW; SEX DETERMINATION; SEX DIFFERENTIATION; TRUE HERMAPHRODITISM;

CHROMOSOME MAPPING; FEMALE; HUMANS; MALE; PHENOTYPE; SEX CHROMOSOME DISORDERS; SEX DETERMINATION (GENETICS); SEX REVERSAL, GONADAL; TRANSLOCATION, GENETIC; X CHROMOSOME; Y CHROMOSOME;

EID: 0034855563     PISSN: 15268004     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-15393     Document Type: Review

References (44)

1. The pseudoautosomal regions of the human sex
2. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
3. The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y
4. The pseudoautosomal boundary in man is defined by an alu repeat sequence inserted on the Y chromosome
5. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes
6. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution
7. Evolution of DNA sequence homologies between the sex chromosomes in primate species
8. Repeated sequence specific to human males
9. Repeated DNA of the Y chromosome
10. Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei
11. A repeating unit of the DYZ1 family on the human Y chromosome consists of segments with partial male-specificity
12. A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides
13. Distribution of DYZ2 repetitive sequences on the human Y chromosome
14. Organisation of DYZ2 repetitive DNA on the human Y chromosome
15. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
16. The human SRY protein is present in fetal and adult Sertoli cells and germ cells
17. Male development of chromosomally female mice transgenic for Sry
18. Sex chromosome genetics '99: Male infertility and the Y chromosome
19. The etiology of maleness in XX men
20. Abnormalities of gonadal differentiation
21. X-Y chromosomal interchange in the etiology of true hermaphroditism and of XX Klinefelter's syndrome
22. A deletion map of the human Y chromosome based on DNA hybridization
23. An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness
24. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness
25. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+) XX males and (Y-)XY females
26. PCR analysis of Y-chromosome sequences in a 45,X male patient and a review of the literature
27. 45,X male with an X;Y translocation: Implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
28. A selective difference between human Y-chromosomal DNA haplotypes
29. Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1)
30. SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite
31. Sex determination and the Y chromosome
32. Sex reversal in a child with a 46,X,Yp+ karyotype: Support for the existence of a gene(s) located in distal Xp, involved in testis determination
33. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
34. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism
35. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
36. Dax1 antagonizes Sry action in mammalian sex determination
37. Role of Ahch in gonadal development and gametogenesis
38. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation
39. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome
40. Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: Evidence for the etiology of 46,XX true hermaphroditism
41. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome
42. Another observation of microphthalmia in an XX male: Microphthalmia with linear skin defects syndrome without linear skin lesions
43. Second 46,XX male with MLS syndrome
44. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization