2000
DOI: 10.1093/hmg/9.17.2563
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Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

Abstract: We mapped the breakpoints of the AZoospermia factor a (AZFa) microdeletion located in proximal Yq11 in six men with complete germ cell aplasia, i.e. Sertoli Cell Only syndrome (SCO). The proximal breakpoints were identified in a long retroviral sequence block (HERV15yq1: 9747 nucleotides) at the 5' end of the DYS11 DNA locus in Yq11, interval D3. The distal breakpoints were found in a homologous HERV15 sequence block mapped to the Yq11 interval D6, i.e. in the distal part of the AZFa region (HERV15yq2: 9969 nu… Show more

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Cited by 194 publications
(150 citation statements)
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“…Complete AZFa deletions occurs after homologous recombination between identical sequence blocks within the retroviral sequences in the same orientation HERVyq1 and HERVyq2 (9)(10)(11). The complete deletion of AZFb is caused by homologous recombination between the palindromes P5/proximal P1 which removes also part of the AZFc region belonging to P1 (8).…”
Section: Type Of Clinically Relevant Azf Deletionsmentioning
confidence: 99%
“…Complete AZFa deletions occurs after homologous recombination between identical sequence blocks within the retroviral sequences in the same orientation HERVyq1 and HERVyq2 (9)(10)(11). The complete deletion of AZFb is caused by homologous recombination between the palindromes P5/proximal P1 which removes also part of the AZFc region belonging to P1 (8).…”
Section: Type Of Clinically Relevant Azf Deletionsmentioning
confidence: 99%
“…6 Although Alu-mediated NAHR contributes to a large variety of genetic disorders, L1-mediated NAHR and human endogenous retrovirus-mediated NAHR are very rare causes of human diseases. [9][10][11][12] Only three human diseasesglycogen storage disease type IXb, Alport syndrome-diffuse leiomyomatosis, and Ellis-van Creveld syndrome -have been reported to be caused by L1-mediated NAHR. [13][14][15] To our knowledge, this is the fourth NAHR event to cause human disease, in this case Perlman syndrome.…”
Section: Discussionmentioning
confidence: 99%
“…An intrachromosomal recombination event between 2 homologous retroviral sequence blocks (HERV15yq1 and HERV15yq2) deletes 792 kb of this AZFa region [47][48][49] . No somatic pathology was observed in men with this large Y deletion; however, they had a severe testicular pathology.…”
Section: Azfa Locus and Gene Deletions And Male Infertilitymentioning
confidence: 99%