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PubMed1994

MR angiography of the pelvis with variable velocity encoding and a phased-array coil.

PURPOSE: To evaluate the feasibility of an automated variable velocity-encoding sequence and improve the signal-to-noise ratio (S/N) on magnetic resonance angiograms with use of phase contrast and a pelvic phased-array coil. MATERIALS AND METHODS: Three cardiac-gated, two-dimensional (2D), phase-contrast (PC) sequences were evaluated in 10 healthy subjects. A 2D gated PC sequence with variable velocity encoding (velocity-optimized phase contrast [VOPC]) was compared with gated 2D PC sequences performed with high or low constant velocity encoding. S/Ns in VOPC images obtained with a pelvic phased-array coil were compared with those in VOPC images obtained with a body coil. RESULTS: Two blinded readers preferred VOPC for simultaneous display of large and small blood vessels in one acquisition compared with constant low (P = .0105) and high (P = .0067) velocity encoding and for overall image interpretation. VOPC images obtained with the pelvic coil had a 68%-100% better S/N compared with those obtained with the body coil. CONCLUSION: Use of a phased-array coil and variable velocity encoding improves depiction of segmental vascular anatomic structures of the pelvis.

Blood Flow Velocity↗
PubMed2004

Encoder adaptation modulates the visual responses of crayfish interneurons.

The responses of sustaining and dimming fibers were characterized by the time varying firing rates elicited by extrinsic current and flashes of light. These data were simulated by an adaptive integrate-and-fire model. A postimpulse shunt conductance simulated spike-frequency adaptation. The correlation between observed and model current-elicited impulse rates was 0.94-0.98. However, except for a difference in input resistance (both measured and simulated), the voltage to impulse encoders of the two cell groups was similar and exhibited comparable degrees of spike-frequency adaptation (40 to 45%). The encoder model derived from current-elicited responses (with fixed parameters) was used to simulate visual responses elicited by light flashes. These simulations included a synaptic current derived from the time course of the postsynaptic potential (PSP). The sustaining fiber visual response consisted of a large excitatory PSP and high-frequency transient burst that adapted (by approximately 80%) to a low-frequency plateau discharge. The simulations indicated that spike-frequency adaptation had no effect on the transient discharge but reduced the plateau firing rate by approximately 60%. Encoder adaptation enhances the sustaining fiber response to the time derivative of the stimulus. In dimming fibers, the light flash elicits an inhibitory PSP that interrupts the "dark discharge" and an off response following the end of the flash. The simulations indicated that spike-frequency adaptation reduces the firing rate of both the dark discharge and the off response. Thus the model suggests that different effects of encoder adaptation on the two cell types arise from the same encoder mechanisms, but different actions are determined by differences in impulse rate and the time course of the discharge.

Action Potentials↗
PubMed2002

Neurons in parafoveal areas V1 and V2 encode vertical and horizontal disparities.

Stereoscopic vision mainly relies on binocular horizontal disparity (HD), and its cortical encoding is well established in the foveal representation of the visual field. The role of vertical disparity (VD) is more controversial. Thus far, in the monkey, very few studies have investigated the HD sensitivity beyond 5 degrees of retinal eccentricity and no evidence of a real encoding of VD exists in the parafoveal representation of areas V1 and V2. Using dynamic random dot stereograms, we have tested both HD and VD selectivities in the parafoveal representation of V1 (calcarine V1) and V2 (eccentricities > 10 degrees ) in a behaving monkey. HD and VD selectivities have been characterized using fitting with Gabor function. A large proportion of the tested cells were both HD and VD selective (47%) and, to a lesser extent, HD selective only (8%) or VD selective only (23%). We found a real encoding of VD, with the same diversity in the tuning profiles as described for HD, that cannot be assimilated to a simple perturbation of the HD matching process. Moreover, the VD encoding had a finer scale than the HD one, which is coherent with the smaller range of naturally occurring VD. For the HD encoding, both the percentage of selective cells and the tuning parameters were close to those reported in foveal V1. These results show that, at parafoveal eccentricities in V1 and V2, disparity detectors are tuned to both horizontal and vertical dimensions of the positional disparity existing between matched features in both retinas.

Animals↗
PubMed2005

Transient disruption of ventrolateral prefrontal cortex during verbal encoding affects subsequent memory performance.

Episodic memory supports conscious remembrance of everyday experience. Prior functional neuroimaging data indicate that episodic encoding during phonological task performance is correlated with activation in bilateral posterior ventrolateral prefrontal cortex (pVLPFC), although uncertainty remains regarding whether these prefrontal regions make necessary contributions to episodic memory formation. Using functional MRI data to guide application of single-pulse transcranial magnetic stimulation (spTMS), this study examined the necessity of left and right pVLPFC for episodic encoding (as expressed through subsequent memory performance). To assess the timing of critical computations, pVLPFC function was transiently disrupted at different poststimulus onset times while subjects made syllable decisions about visually presented familiar and unfamiliar words; subsequent memory for these stimuli was measured. Results revealed that left pVLPFC disruption during encoding of familiar words impaired subsequent memory, expressed as a decline in recognition confidence, with disruption being maximal at 380 ms after stimulus onset. In contrast, right pVLPFC disruption facilitated subsequent memory for familiar words, expressed as an increase in medium confidence recognition, with this facilitation being maximal at 380 ms. Finally, phonological (syllable) decision accuracy was facilitated by right pVLPFC disruption, with this effect being maximal at 340 ms, but was unaffected by left pVLPFC disruption. These findings suggest that left pVLPFC mechanisms onset between 300 and 400 ms during phonological processing of words, with these mechanisms appearing necessary for effective episodic encoding. In contrast, disruption of correlated mechanisms in right pVLPFC facilitates encoding, perhaps by inducing a functional shift in the mechanisms engaged during learning.

Adolescent↗
PubMed1999

Neural mechanisms for encoding binocular disparity: receptive field position versus phase.

The visual system uses binocular disparity to discriminate the relative depth of objects in space. Because the striate cortex is the first site along the central visual pathways at which signals from the left and right eyes converge onto a single neuron, encoding of binocular disparity is thought to begin in this region. There are two possible mechanisms for encoding binocular disparity through simple cells in the striate cortex: a difference in receptive field (RF) position between the two eyes (RF position disparity) and a difference in RF profiles between the two eyes (RF phase disparity). Although there is evidence that supports each of these schemes, both mechanisms have not been examined in a single study to determine their relative roles. In this study, we have measured RF position and phase disparities of individual simple cells in the cat's striate cortex to address this issue. Using a sophisticated RF mapping technique that employs binary m-sequences, we have obtained left and right eye RF profiles of two or more cells recorded simultaneously. A version of the reference-cell method was used to estimate RF position disparity. We find that RF position disparities generally are limited to values that are not sufficient to encode large binocular disparities. In contrast, RF phase disparities cover a wide range of binocular disparities and exhibit dependencies on RF orientation and spatial frequency in a manner expected for a mechanism that encodes binocular disparity. These results suggest that binocular disparity is encoded mainly through RF phase disparity. However, RF position disparity may play a significant role for cells with high spatial frequency selectivity that are constrained to have only small RF phase disparities.

Animals↗
PubMed2000

Encoding of location and intensity of noxious indentation into rat skin by spatial populations of cutaneous mechano-nociceptors.

The ability of a spatial population of cutaneous, Adelta, and C mechano-nociceptors to encode the location and intensity of a noxious, cutaneous indentation was examined using an isolated preparation in a rat model. Skin and its intact innervation were harvested from the medial thigh of the rat hindlimb and placed in a dish, with the corium side down, containing synthetic interstitial fluid. The margins of the skin were coupled to an apparatus that could stretch and apply compression to the skin. The skin was suspended on top of a deformable platform whose bulk, nonlinear, compressive compliance emulated that found in vivo. The isolated preparation facilitated examination of the spatial population response by eliminating the nonlinear geometry and inhomogeneous compressive compliance present in-vivo. Spatial population responses (SPR) were formed from recordings of single neurons that were stimulated by compressing the skin with an indenter (flat cylinder, 3-mm diam) at discrete intervals from the center of their receptive fields. SPR were composed of the neural responses (z axis) at each indentation location (x, y plane), and were analyzed quantitatively using nonlinear regression to fit an equation of a Gaussian surface. Both Adelta and C SPR accurately encoded the location and intensity of noxious indentation. The intensity of the stimulus was encoded in the peak neural response of the SPR, which had a nonlinear relationship to the compressive force. The location of the stimulus was encoded in the x, y position of the peak of the SPR. The position of the peak remained constant with increasing magnitudes of compressive force. The overall form of the SPR also remained constant with changes of compressive load, suggesting a possible role for encoding in the SPR some aspects of shape of a noxious stimulus.

Analysis of Variance↗
PubMed1997

Chromosomal mapping of the gene encoding serotonin N-acetyltransferase to rat chromosome 10q32.3 and mouse chromosome 11E2.

Pineal melatonin is produced during the night. Its nocturnal increase regulates circadian rhythms and the photoperiodic reproductive response. Serotonin is acetylated to N-acetylserotonin by serotonin N-acetyltransferase (SNAT) and then methylated to form melatonin by hydroxyindole-O-methyltransferase (HIOMT). The rhythmicity of melatonin synthesis is regulated by the rhythmic activity of SNAT. Most laboratory mice do not have melatonin because of a genetic defect in the activity of SNAT and/or HIOMT. In a previous study using a recombinant inbred strain, we have found that the locus controlling pineal SNAT activity (Nat4) is located on mouse Chromosome 11. Recently, SNAT has been cloned in the rat. In the present study, the gene encoding SNAT was localized, using a rat cDNA fragment, on rat and mouse chromosomes by direct R-banding fluorescence in situ hybridization (FISH). In addition, using molecular linkage analysis with interspecific backcross mice, a gene encoding SNAT was mapped on a mouse chromosome. The gene encoding SNAT was localized to rat chromosome 10q32.3 and mouse Chromosome 11E2 by FISH. The molecular linkage analysis demonstrated that the gene encoding SNAT maps 1.5 cM distal to D11Mit11. The data suggest that Nat4 encodes SNAT. These chromosomal locations are in a region of conserved linkage homology between the two species.

Animals↗
PubMed1983

The evolution and complexity of the genes encoding the cytoskeletal proteins of human epidermal cells.

In order to explore the differential expression and evolutionary conservation of the genes encoding the cytoskeletal proteins for human epidermal cells, we have constructed a library of bacterial plasmids containing inserts of double-stranded cDNAs complementary to the mRNAs of cultured human epidermal cells. Cloned hybrid plasmids containing 45-95% of the sequences present in keratin, actin, and tubulin mRNAs were isolated and characterized. To identify the cDNAs encoding the four major keratins of human epidermal cells, the clones were initially screened for their ability to hybridize strongly with 32P-labeled cDNA prepared from unfractionated epidermal mRNA (about 30% keratin mRNA). Strongly hybridizing clones were further characterized by positive hybrid selection. Two distinct classes of clones were identified: One class hybridized specifically to the 56 and 58kd keratin mRNAs and one class hybridized specifically to the 46 and 50kd keratin mRNAs. Each class is encoded by a separate multigene family of about 10 genes. The two classes of sequences are conserved throughout vertebrate evolution, indicating the functional importance of each class in filament assembly. Clones containing human cDNA sequences encoding a cytoplasmic actin and alpha-tubulin were selected by hybridization screening using 32P-labeled cloned cDNAs for the mRNAs of beta-actin and alpha-tubulin of embryonic chick brain. The identity of these clones was established by positive hybrid selection and by DNA sequence analysis. Similar to the keratins, the actins and tubulins are also encoded by multigene families which are highly evolutionarily conserved. The availability of cloned cDNAs specific for each of three types of epithelial cytoskeletal proteins allows us to investigate the coordinate expression of their mRNAs during terminal differentiation in human epidermis.

Actins↗
PubMed2005

Effects of divided attention on fMRI correlates of memory encoding.

Performing a secondary task concurrently with a study task has a detrimental effect on later memory for studied items. To investigate the mechanisms underlying this effect, the processing resources available for an incidental encoding task were varied by manipulating secondary task difficulty. fMRI data were acquired as volunteers (n = 16) made animacy decisions to visually presented study words while concurrently performing either an easy or a hard auditory monitoring task. "Subsequent memory effects"--greater activity at study for words later remembered versus words later forgotten--were identified in the left ventral inferior frontal gyrus and the left anterior hippocampus. These effects did not vary according to whether the encoding task was performed concurrently with the easy or the hard secondary task. However, as secondary task difficulty increased, study-item activity declined and auditory-item activity increased in dorsolateral prefrontal and superior parietal regions that have been implicated in the support of executive and control functions. The findings suggest that dividing attention during encoding influences the probability of engaging the encoding operations that support later episodic memory, but does not alter the nature of the operations themselves. The findings further suggest that the probability of engaging these encoding operations depends on the level of general processing resources engaged in service of the study task.

Adult↗
PubMed2000

Multidimensional encoding strategy of spiking neurons.

Neural responses in sensory systems are typically triggered by a multitude of stimulus features. Using information theory, we study the encoding accuracy of a population of stochastically spiking neurons characterized by different tuning widths for the different features. The optimal encoding strategy for representing one feature most accurately consists of narrow tuning in the dimension to be encoded, to increase the single-neuron Fisher information, and broad tuning in all other dimensions, to increase the number of active neurons. Extremely narrow tuning without sufficient receptive field overlap will severely worsen the coding. This implies the existence of an optimal tuning width for the feature to be encoded. Empirically, only a subset of all stimulus features will normally be accessible. In this case, relative encoding errors can be calculated that yield a criterion for the function of a neural population based on the measured tuning curves.

Action Potentials↗
PubMed2006

Prefrontal engagement during source memory retrieval depends on the prior encoding task.

The prefrontal cortex is strongly engaged by some, but not all, episodic memory tests. Prior work has shown that source recognition tests--those that require memory for conjunctions of studied attributes--yield deficient performance in patients with prefrontal damage and greater prefrontal activity in healthy subjects, as compared to simple recognition tests. Here, we tested the hypothesis that there is no intrinsic relationship between the prefrontal cortex and source memory, but that the prefrontal cortex is engaged by the demand to retrieve weakly encoded relationships. Subjects attempted to remember object/color conjunctions after an encoding task that focused on object identity alone, and an integrative encoding task that encouraged attention to object/color relationships. After the integrative encoding task, the late prefrontal brain electrical activity that typically occurs in source memory tests was eliminated. Earlier brain electrical activity related to successful recognition of the objects was unaffected by the nature of prior encoding.

Adult↗
PubMed1993

Independently derived murine glomerular immune deposit-forming anti-DNA antibodies are encoded by near-identical VH gene sequences.

To examine the influence of variable region sequences on the capacity of individual lupus autoantibodies (autoAb) to form glomerular immune deposits, the complete VH and VL region sequences of three anti-DNA mAb that produced morphologically similar immune deposits after administration to normal mice were determined. The Ig were independently derived from 1-mo-old (H238, IgM), 3-mo-old (H8, IgG2a), and 6-mo-old (H161, IgG3) MRL-lpr/lpr mice, and they all produced subendothelial and mesangial immune deposits after passive transfer to normal mice. In addition, H238 and H161 produced granular deposits in small extraglomerular vessels. The mAb had nearly identical VH gene sequences; H8 differed from H238 and H161 by a single nucleotide in FR1 that resulted in a histidine for glutamine substitution. This VH gene sequence was also > 99% homologous to another anti-DNA Ab (termed H241), that we previously reported to produce glomerular immune deposits in a similar morphologic pattern. H161 and H238 were encoded by DFL16 and JH2 genes, whereas H8 was encoded by a JH4 gene. Different Vk family genes were used to encode the three mAb, however H161 and H238 both used a Jk5 gene. The results indicate that an identical or highly related VH gene is used to encode a subgroup of murine lupus autoAb that share immune deposit forming properties. Furthermore, they raise the possibility that amino acid residues independent from those encoded by VH genes may be influential in immune deposit formation at extraglomerular sites.

Amino Acid Sequence↗
PubMed2006

Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.

The mitochondrial oxidative phosphorylation system is composed of five multiprotein complexes. The fourth complex of this system, cytochrome c oxidase (complex IV), consists of 13 subunits: 3 encoded by mitochondrial DNA and 10 encoded by the nuclear genome. Patients with an isolated complex IV deficiency frequently harbor mutations in nuclear genes encoding for proteins necessary for the assembly of the complex. Strikingly, until now, no mutations have been detected in the nuclear encoded structural subunits of complex IV in these patients. We report the results of a mutational analysis study in patients with isolated complex IV deficiency screened for mutations in all structural genes as well as assembly genes known to cause complex IV deficiency. Four patients carried mutations in the complex IV assembly gene SURF1. One patient harbored a mutation in the COX10 gene involved in heme A synthesis. Mutations in the 10 nuclear encoded structural genes were not present.

Alkyl and Aryl Transferases↗
PubMed2001

New Staphylococcus aureus incompatibility group 1 plasmids encoding penicillinase production and resistance to different antibacterial agents.

Eleven Staphylococcus aureus plasmids encoding penicillinase production and resistance to different antibacterial agents were transferred to laboratory recipient strains in mixed-culture transfer and transduction experiments and characterized by restriction endonuclease analysis and incompatibility. The plasmids were differentiated into four types (types A-D) on the basis of their resistance phenotypes and restriction endonuclease patterns. One type encoded resistance to cadmium and arsenate. The second type encoded resistance to cadmium, mercuric compounds and nucleic acid-binding compounds. The third type encoded resistance to cadmium, kanamycin, neomycin and streptomycin while the fourth type encoded resistance to kanamycin, neomycin and ethidium bromide. Plasmids within the same class were structurally related or similar and were different from those in the other classes. Three plasmids, pWBG626, pWBG628, and pWBG663, representing three of the four plasmid types, belonged to incompatibility group 1. These new plasmids add to the number of known incompatibility group 1 plasmids and have resistance phenotypes which should be useful for studying incompatibility of new S. aureus plasmids.

Drug Resistance, Microbial↗
PubMed2006

Lactobacillus plantarum gene clusters encoding putative cell-surface protein complexes for carbohydrate utilization are conserved in specific gram-positive bacteria.

BACKGROUND: Genomes of gram-positive bacteria encode many putative cell-surface proteins, of which the majority has no known function. From the rapidly increasing number of available genome sequences it has become apparent that many cell-surface proteins are conserved, and frequently encoded in gene clusters or operons, suggesting common functions, and interactions of multiple components. RESULTS: A novel gene cluster encoding exclusively cell-surface proteins was identified, which is conserved in a subgroup of gram-positive bacteria. Each gene cluster generally has one copy of four new gene families called cscA, cscB, cscC and cscD. Clusters encoding these cell-surface proteins were found only in complete genomes of Lactobacillus plantarum, Lactobacillus sakei, Enterococcus faecalis, Listeria innocua, Listeria monocytogenes, Lactococcus lactis ssp lactis and Bacillus cereus and in incomplete genomes of L. lactis ssp cremoris, Lactobacillus casei, Enterococcus faecium, Pediococcus pentosaceus, Lactobacillius brevis, Oenococcus oeni, Leuconostoc mesenteroides, and Bacillus thuringiensis. These genes are neither present in the genomes of streptococci, staphylococci and clostridia, nor in the Lactobacillus acidophilus group, suggesting a niche-specific distribution, possibly relating to association with plants. All encoded proteins have a signal peptide for secretion by the Sec-dependent pathway, while some have cell-surface anchors, novel WxL domains, and putative domains for sugar binding and degradation. Transcriptome analysis in L. plantarum shows that the cscA-D genes are co-expressed, supporting their operon organization. Many gene clusters are significantly up-regulated in a glucose-grown, ccpA-mutant derivative of L. plantarum, suggesting catabolite control. This is supported by the presence of predicted CRE-sites upstream or inside the up-regulated cscA-D gene clusters. CONCLUSION: We propose that the CscA, CscB, CscC and CscD proteins form cell-surface protein complexes and play a role in carbon source acquisition. Primary occurrence in plant-associated gram-positive bacteria suggests a possible role in degradation and utilization of plant oligo- or poly-saccharides.

Antigens, Surface↗
PubMed2006

An inventory of mucin genes in the chicken genome shows that the mucin domain of Muc13 is encoded by multiple exons and that ovomucin is part of a locus of related gel-forming mucins.

BACKGROUND: Mucins are large glycoproteins that cover epithelial surfaces of the body. All mucins contain at least one PTS domain, a region rich in proline, threonine and serine. Mucins are also characterized by von Willebrand D (VWD) domains or SEA domains. We have developed computational methods to identify mucin genes and proteins based on these properties of the proteins. Using such methods we are able to characterize different organisms where genome sequence is available with respect to their mucin repertoire. RESULTS: We have here made a comprehensive analysis of potential mucins encoded by the chicken (Gallus gallus) genome. Three transmembrane mucins (Muc4, Muc13, and Muc16) and four gel-forming mucins (Muc6, Muc2, Muc5ac, and Muc5b) were identified. The gel-forming mucins are encoded within a locus similar to the corresponding human mucins. However, the chicken has an additional gene inserted between Muc2 and Muc5ac that encodes the the alpha-subunit of ovomucin, a protein similar to Muc2, but it is lacking a PTS domain. We also show that the beta-subunit of ovomucin is the orthologue of human MUC6. The transmembrane Muc13 gene is in chicken as well as in mammals adjacent to the HEG (heart of glass) gene. HEG has PTS, EGF and transmembrane domains like Muc13, suggesting that these two proteins are evolutionary related. Unlike previously known mucins, the PTS domain of Muc13 is encoded by multiple exons, where each exon encodes a repeat unit of the PTS domain. CONCLUSION: We report new mucin homologues in chicken and this information will aid in understanding the evolution of mucins in vertebrates. The fact that ovomucin, a protein not found in mammals, was located in the same locus as other gel-forming mucins provides strong support that these proteins are evolutionary related. Furthermore, a relationship of HEG and the transmembrane Muc13 is suggested on the basis of their biochemical properties and their presence in the same locus. Finally, our finding that the chicken Muc13 is distributed between multiple exons raises the interesting possibility that the length of the PTS domain could be controlled by alternative splicing.

Amino Acid Sequence↗
PubMed2005

Identification of a truncated nucleoprotein in avian metapneumovirus-infected cells encoded by a second AUG, in-frame to the full-length gene.

BACKGROUND: Avian metapneumoviruses (aMPV) cause an upper respiratory disease with low mortality, but high morbidity primarily in commercial turkeys. There are three types of aMPV (A, B, C) of which the C type is found only in the United States. Viruses related to aMPV include human, bovine, ovine, and caprine respiratory syncytial viruses and pneumonia virus of mice, as well as the recently identified human metapneumovirus (hMPV). The aMPV and hMPV have become the type viruses of a new genus within the Metapneumovirus. The aMPV nucleoprotein (N) amino acid sequences of serotypes A, B, and C were aligned for comparative analysis. Based on predicted antigenicity of consensus protein sequences, five aMPV-specific N peptides were synthesized for development of peptide-antigens and antisera. RESULTS: The presence of two aMPV nucleoprotein (N) gene encoded polypeptides was detected in aMPV/C/US/Co and aMPV/A/UK/3b infected Vero cells. Nucleoprotein 1 (N1) encoded from the first open reading frame (ORF) was predicted to be 394 amino acids in length for aMPV/C/US/Co and 391 amino acids in length for aMPV/A/UK/3b with approximate molecular weights of 43.3 kilodaltons and 42.7 kilodaltons, respectively. Nucleoprotein 2 (N2) was hypothesized to be encoded by a second downstream ORF in-frame with ORF1 and encoded a protein predicted to contain 328 amino acids for aMPV/C/US/Co or 259 amino acids for aMPV/A/UK/3b with approximate molecular weights of 36 kilodaltons and 28.3 kilodaltons, respectively. Peptide antibodies to the N-terminal and C-terminal portions of the aMPV N protein confirmed presence of these products in both aMPV/C/US/Co- and aMPV/A/UK/3b-infected Vero cells. N1 and N2 for aMPV/C/US/Co ORFs were molecularly cloned and expressed in Vero cells utilizing eukaryotic expression vectors to confirm identity of the aMPV encoded proteins. CONCLUSION: This is the first reported identification of potential, accessory in-frame N2 ORF gene products among members of the Paramyxoviridae. Genomic sequence analyses of related members of the Pneumovirinae other than aMPV, including human respiratory syncytial virus and bovine respiratory syncytial virus demonstrated the presence of this second potential ORF among these agents.

Animals↗
PubMed2005

Identification of novel Y chromosome encoded transcripts by testis transcriptome analysis of mice with deletions of the Y chromosome long arm.

BACKGROUND: The male-specific region of the mouse Y chromosome long arm (MSYq) is comprised largely of repeated DNA, including multiple copies of the spermatid-expressed Ssty gene family. Large deletions of MSYq are associated with sperm head defects for which Ssty deficiency has been presumed to be responsible. RESULTS: In a search for further candidate genes associated with these defects we analyzed changes in the testis transcriptome resulting from MSYq deletions, using testis cDNA microarrays. This approach, aided by accumulating mouse MSYq sequence information, identified transcripts derived from two further spermatid-expressed multicopy MSYq gene families; like Ssty, each of these new MSYq gene families has multicopy relatives on the X chromosome. The Sly family encodes a protein with homology to the chromatin-associated proteins XLR and XMR that are encoded by the X chromosomal relatives. The second MSYq gene family was identified because the transcripts hybridized to a microarrayed X chromosome-encoded testis cDNA. The X loci ('Astx') encoding this cDNA had 92-94% sequence identity to over 100 putative Y loci ('Asty') across exons and introns; only low level Asty transcription was detected. More strongly transcribed recombinant loci were identified that included Asty exons 2-4 preceded by Ssty1 exons 1, 2 and part of exon 3. Transcription from the Ssty1 promotor generated spermatid-specific transcripts that, in addition to the variable inclusion of Ssty1 and Asty exons, included additional exons because of the serendipitous presence of splice sites further downstream. CONCLUSION: We identified further MSYq-encoded transcripts expressed in spermatids and deriving from multicopy Y genes, deficiency of which may underlie the defects in sperm development associated with MSYq deletions.

Adaptor Proteins, Signal Transducing↗