Abundant gene conversion between arms of palindromes in human and ape Y chromosomes
@article{Rozen2003AbundantGC, title={Abundant gene conversion between arms of palindromes in human and ape Y chromosomes}, author={Steve Rozen and Helen Skaletsky and Janet D. Marszalek and Patrick Minx and Holland S. Cordum and Robert H. Waterston and Richard K. Wilson and David C. Page}, journal={Nature}, year={2003}, volume={423}, pages={873-876} }
Eight palindromes comprise one-quarter of the euchromatic DNA of the male-specific region of the human Y chromosome, the MSY. They contain many testis-specific genes and typically exhibit 99.97% intra-palindromic (arm-to-arm) sequence identity. This high degree of identity could be interpreted as evidence that the palindromes arose through duplication events that occurred about 100,000 years ago. Using comparative sequencing in great apes, we demonstrate here that at least six of these MSY…
574 Citations
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References
SHOWING 1-10 OF 55 REFERENCES
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
- BiologyNature
- 2003
The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length, and is a mosaic of heterochromatic sequences and three classes of euchromatics sequences: X-transposed, X-degenerate and ampliconic.
Unexpectedly similar rates of nucleotide substitution found in male and female hominids
- BiologyNature
- 2000
It is inferred that, in humans and their immediate ancestors, male and female mutation rates were far more similar than previously supposed.
SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens
- BiologyHuman Genetics
- 2001
Abstract. The spinal muscular atrophy (SMA) region on chromosome 5q13 contains an inverted duplication of about 500 kb, and deleterious mutations in the survival motor neuron 1 (SMN1) gene cause SMA,…
Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations.
- BiologyHuman molecular genetics
- 1998
It was found that human DAZ exons and introns are evolving at the same rate, implying neutral genetic drift and the absence of any functional selective pressures, and hypothesized that Y-linked DAZ plays little, or a limited, role in human spermatogenesis.
Strong male-driven evolution of DNA sequences in humans and apes
- BiologyNature
- 2002
This study reinstates a high α in hominoids and supports the view that DNA replication errors are the primary source of germline mutation and suggests that closely related species are not suitable for estimating α.
Recent Segmental Duplications in the Human Genome
- BiologyScience
- 2002
A method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence has the ability to detect duplications larger than 15 kilobases irrespective of copy number, location, or high sequence similarity.
Gene conversion and natural selection in the evolution of X-linked color vision genes in higher primates.
- BiologyMolecular biology and evolution
- 1996
Intron 4 sequences of the red and green pigment genes of a male human, a male chimpanzee, and a male baboon were amplified by PCR and sequenced and showed that the introns 4 sequences between the two genes have been strongly or completely homogenized in the three species studied.
Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome.
- BiologyGenomics
- 2000
Fluorescence in situ hybridization and characterization of BAC clones revealed four full-length DAZ genes on the human Y chromosome, and can reconstruct several steps in the evolution of theDAZ genes in the ancestral Y-chromosomal DAZ gene.
A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance.
- BiologyScience
- 1985
A human DNA sequence (p12f2), derived from a partial Y-chromosome genomic library and showing homology with the X and Y chromosomes and with an undetermined number of autosomes, detected two…
Population genetic implications from sequence variation in four Y chromosome genes.
- BiologyProceedings of the National Academy of Sciences of the United States of America
- 2000
Analysis of the frequencies of derived alleles for all four genes showed that they more closely fit the expectation of a Luria-Delbrück distribution than a distribution expected under a constant population size model, providing evidence for exponential population growth.