Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

Human Molecular Genetics

Volumn 9, Issue 17, 2000, Pages 2563-2572

  Kamp, Christine ^a   Hirschmann, Peter ^a   Voss, Hartmut ^b   Huellen, Karin ^a   Vogt, Peter H ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b LIONbioscience AG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

VIRUS DNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; AZOOSPERMIA; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME INSERTION; CHROMOSOME YQ; CLINICAL ARTICLE; CONTROLLED STUDY; GENE FUSION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC DISTANCE; GENETIC LINKAGE; GENETIC RECOMBINATION; GERM CELL; HUMAN; MALE; MALE INFERTILITY; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETROVIRUS; SEQUENCE HOMOLOGY; SERTOLI CELL; VIRUS GENE;

DNA VIRUSES; UNIDENTIFIED RETROVIRUS;

EID: 0034641881     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.17.2563     Document Type: Article

References (38)

1. Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
2. Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
3. Homologous recombination of a flanking repeat gene cluster is a mechanism for common contiguous gene deletion syndrome
4. Human chromosome deletion in Yq11 AZF candidate genes and male infertility: History and update
5. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
6. Introduction
7. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome
8. The human Y chromosome: A 43-interval map based on naturally occurring deletions
9. An azoospermic man with a de novo point mutation in the Y chromosomal gene USP9Y
10. A deletion map of the human Y chromosome based on DNA hybridization
11. Testis-specific transcripts detected by a human Y-DNA-derived probe
12. A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance
13. Report of the third international workshop on Y chromosome mapping 1997
14. Identification of a retinoic acid-inducible endogenous retroviral transcript in the human teratocarcinoma-derived cell line PA1
15. Endogenous human retroviruses
16. Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions
17. Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11)
18. Ancestral, mammilian-wide subfamilies of LINE-1 repetitive sequences
19. Partners and pathways repairing a double-strand break
20. The viruses in all of us: Characteristics and biological significance of human endogenous retrovirus sequences
21. Identification and characterization of novel human endogenous retrovirus families by phylogenetic screening of the human genome mapping project database
22. The Y chromosome: A graveyard for endogenous retroviruses
23. The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences
24. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility
25. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements
26. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
27. Two distinct deletions in the IDS gene and the gene W: A novel type of mutation associated with the Hunter syndrome
28. Low copy repeats mediate the common 3 Mb deletion in patients with velo-cardio-facial syndrome
29. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
30. A physical map, including a BAC/PAC clone contig of the Williams-Beuren syndrome-deletion region at 7q11.23
31. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
32. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
33. Information transfer between duplicated chromosomal sequences in mammalian cells involves contiguous regions of DNA
34. A view of the neolithic demic diffusion in Europe through two Y chromosome-specific markers
35. The use of Y-chromosomal DNA variation to investigate population history
36. Analysis of Yq micro-deletions in infertile males by PCR and DNA hybridisation techniques
37. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human specific spermatogenesis gene
38. Extensive sequence homologies between Y and other human chromosomes