Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development
Article Abstract:
The in vivo functions of murine gene Satb2 are studied, and it is found that similar to the way in which the gene SATB2 is perceived to act in humans, craniofacial defects due to haploinsuficiency of Satb2 including cleft palate, phenocopy those seen with 2q32-33 deletions and translocations in humans. Since jaw development is Satb2-dosage sensitive, the regulators of Satb2 expression and posttranslational modification play crucial roles in jaw and palate development and etiology of craniofacial malformations.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Meiotic recombination and spatial proximity in the etiology of the recurrent (t11;22)
Article Abstract:
The role in the rearrangement due to its spatial proximity of chromosomes 11 and 22 in meiotic prophase oocytes and spermatocytes is tested and the positions of the 11q23 and 22q11 translocation breakpoints are examined. It is concluded that the position and secondary DNA, but not the programmed recombinational activity of 11q23 and 22q11 in the meiotic prophase nucleus, play an important role in the generation of the recurrent constitutional t(11;22) rearrangement.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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A new method for detecting human recombination hotspots and its applications to the HapMap ENCODE data
Article Abstract:
A new method for computational detection of recombination hotspots from population polymorphisms data is proposed based on a multiple-hotspot model and a log-likelihood ratio test. The method shows a relatively high power with a low false-positive rate in detecting multiple hotspots in simulation data and has a performance comparable to the best results of leading computational methods in experimental data.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Comment about this article or add new information about this topic:
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