Search results for "Sex Determination"
showing 10 items of 34 documents
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmito…
2014
The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multimerization and long range signaling potency. However, the biological impact of lipid modifications on Hh ligand distribution and signal reception in humans remains unclear. In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. This mutation…
Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos.
2012
Objective To investigate the metabolomic signature of trisomy 21 preimplantation human embryos by a noninvasive approach using mass spectrometry– (MS-) and nuclear magnetic resonance spectroscopy– (NMR-) based metabolic profiling platforms. Design A total of 171 spent media samples were collected from day 3 embryos and comparatively analyzed by MS analysis (chromosomally normal embryos, n=15; trisomy 21 embryos, n=15) and a matched control media group (without embryo, n=14) and by NMR spectroscopy (normal embryos, n=39; trisomy 21 embryos, n=35; monosomy 21 embryos, n=24) and a matched control media group (without embryo, n=29). Setting IVF clinic/preimplantation genetic diagnosis (PGD) uni…
Molecular markers for germ cell differentiation in the demosponge Suberites domuncula
2004
Sponges (phylum Porifera) are simple metazoans for which no molecular information on gametogenesis and larval development is available. To support the current study, it was confirmed by histology that oocytes and larvae were produced by the demosponge Suberites domuncula. Three genes/expressed products from S. domuncula whose expression correlated with sexual reproduction were identified and characterized (they are used here as marker genes): i) a receptor tyrosine kinase (RTK) with sequence similarity in the tyrosine kinase domain to fibroblast growth factor receptors; ii) the sex-determining protein FEM1 and iii) the sperm associated antigen (SAA) of triploblasts. Antibodies against the e…
Distribution of heterochromatin on the mitotic chromosomes of Musca domestica L. in relation to the activity of male-determining factors
1998
In the housefly, male sex is determined by a dominant factor, M, located either on the Y, on the X, or on any of the five autosomes. M factors on autosome I and on fragments of the Y chromosome show incomplete expressivity, whereas M factors on the other autosomes are fully expressive. To test whether these differences might be caused by heterochromatin-dependent position effects, we studied the distribution of heterochromatin on the mitotic chromosomes by C-banding and by fluorescence in situ hybridization of DNA fragments amplified from microdissected mitotic chromosomes. Our results show a correlation between the chromosomal position of M and the strength of its male-determining activity…
Quantitative parameters and ecological implications of a specialized tritrophic interaction involving a seed-feeding tortricid, Pseudargyrotoza conwa…
2014
Producción Científica
Amelogenin test: From forensics to quality control in clinical and biochemical genomics.
2007
Abstract Background The increasing number of samples from the biomedical genetic studies and the number of centers participating in the same involves increasing risk of mistakes in the different sample handling stages. We have evaluated the usefulness of the amelogenin test for quality control in sample identification. Methods Amelogenin test (frequently used in forensics) was undertaken on 1224 individuals participating in a biomedical study. Concordance between referred sex in the database and amelogenin test was estimated. Additional sex-error genetic detecting systems were developed. Results The overall concordance rate was 99.84% (1222/1224). Two samples showed a female amelogenin test…
Y chromosomes: born to be destroyed
2005
Suppression of recombination is the prerequisite for stable genetically determined sex systems. A consequence of suppression of recombination is the strong bias in the distribution of transposable elements (TEs), mostly retrotransposons. Our results and those from others indicate that the major force driving the degeneration of Y chromosomes are retrotransposons in remodelling former euchromatic chromosome structures into heterochromatic ones. We put forward the following hypotheses. (1) A massive accumulation of retrotransposons occurs early in non-recombining regions. (2) Heterochromatic nucleation centres are formed as a genomic defence mechanism against invasive parasitic elements. The …
Sex estimation by tooth dimension in a contemporary Spanish population.
2020
Aim: Sex determination is a fundamental step in the biologic profile reconstruction of unknown individuals. Teeth are frequently recovered intact, even in case of natural or mass disasters, fires, crashes or accidents. Therefore, they are very valuable in sex determination in a forensic and anthropological context. The objective of this study is to identify a method for sex determination using the mesio-distal widths of permanent teeth, in a contemporary Spanish sample. Method: The mesio-distal dimensions of permanent teeth were obtained from study casts derived from patients seeking treatment at the orthodontic clinic of the Universidad Europea de Valencia. A total of 210 patients were inc…
Computer-assisted sperm morphometry fluorescence-based analysis has potential to determine progeny sex
2016
This study was designed to determine the ability of computer-assisted sperm morphometry analysis (CASA-Morph) with fluorescence to discriminate between spermatozoa carrying different sex chromosomes from the nuclear morphometrics generated and different statistical procedures in the bovine species. The study was divided into two experiments. The first was to study the morphometric differences between X- and Y-chromosome-bearing spermatozoa (SX and SY, respectively). Spermatozoa from eight bulls were processed to assess simultaneously the sex chromosome by FISH and sperm morphometry by fluorescence-based CASA-Morph. SX cells were larger than SY cells on average (P < 0.001) although with impo…
Sex change in plants and animals: a unified perspective
2014
The capacity of organisms to change their sex has evolved independently in several plant and animal lineages. Sex change has been widely studied, but research approaches have differed for plants and animals, and conclusions have often been taxon-specific. Although sex allocation theory provides a unifying framework for the study of sex change, this unity has not always been appreciated, especially in the botanical literature. Here, we review sex change with regard to its representation in relation to taxonomy and other sexual systems, with regard to its suggested adaptive benefits, and to the role of taxon-specific body architecture, such as modularity and gonadal structure. We highlight di…