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The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.
- Source :
-
Nature genetics [Nat Genet] 2001 Nov; Vol. 29 (3), pp. 279-86. - Publication Year :
- 2001
-
Abstract
- Deletions of the AZFc (azoospermia factor c) region of the Y chromosome are the most common known cause of spermatogenic failure. We determined the complete nucleotide sequence of AZFc by identifying and distinguishing between near-identical amplicons (massive repeat units) using an iterative mapping-sequencing process. A complex of three palindromes, the largest spanning 3 Mb with 99.97% identity between its arms, encompasses the AZFc region. The palindromes are constructed from six distinct families of amplicons, with unit lengths of 115-678 kb, and may have resulted from tandem duplication and inversion during primate evolution. The palindromic complex contains 11 families of transcription units, all expressed in testis. Deletions of AZFc that cause infertility are remarkably uniform, spanning a 3.5-Mb segment and bounded by 229-kb direct repeats that probably served as substrates for homologous recombination.
- Subjects :
- Base Sequence
Chromosome Inversion
Chromosomes, Human, Pair 3 genetics
Deleted in Azoospermia 1 Protein
Evolution, Molecular
Gene Duplication
Humans
Male
Models, Genetic
Molecular Sequence Data
Oligospermia genetics
Organ Specificity
Physical Chromosome Mapping
RNA-Binding Proteins genetics
Recombination, Genetic genetics
Sequence Analysis, DNA
Sequence Deletion genetics
Sequence Homology, Nucleic Acid
Spermatozoa metabolism
Tandem Repeat Sequences genetics
Testis metabolism
Transcription, Genetic genetics
Chromosome Deletion
Infertility, Male genetics
Y Chromosome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 29
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 11687796
- Full Text :
- https://doi.org/10.1038/ng757