scholarly journals Evolutionary phenome-genome analysis of cranial suture closure in mammals

2020 ◽  
Author(s):  
Borja Esteve-Altava ◽  
Fabio Barteri ◽  
Xavier Farré ◽  
Gerard Muntané ◽  
Juan Francisco Pastor ◽  
...  

ABSTRACTCranial sutures are growth and stress diffusion sites that connect the bones protecting the brain. The closure of cranial suture is a key feature of mammalian late development and evolution, which can also lead to head malformations when it occurs prematurely (craniosynostosis). To unveil the phenotypic and genetic causes of suture closure in evolution, we examined 48 mammalian species searching for (i) causal links between suture patency, brain size, and diet using phylogenetic path analysis; and (ii) instances of genome-phenome convergence amino acid substitutions. Here we show that brain size and the anteroposterior order of ossification of the skull are the two main causes of sutures patency in evolution. We also identified three novel candidate genes for suture closure in evolution (HRNR, KIAA1549, and TTN), which have never been reported in clinical studies of craniosynostosis. Our results suggest that different genetic pathways underlie cranial suture closure in evolution and disease.

2021 ◽  
Vol 9 (4) ◽  
pp. 8151-8155
Author(s):  
Khaleel N ◽  
◽  
Angadi A V ◽  
Muralidhar P S ◽  
Shabiya M ◽  
...  

Background: Cranial sutures are syndesmosis between the cranial bones. The coronal suture is oblique in direction and extends between the frontal and the parietal bones. Craniosynostosis is a rare birth defect that occurs when the coronal suture in the skull fuses prematurely, but the brain continues to grow and develop. This leads to a misshapen head. There are a number of forms of this defect, such as coronal, sagittal, lambdoid, and metopic. Materials and Methods: Total 500 skulls were used for study, coronal suture length measured by thread method, distance between Nasion to bregma and midsupraorbital rim to coronal suture were measured. For finding skull with absence of coronal, sagittal, lambdoid, and metopic suture, we examined many skulls during routine osteology classes of Medical, Dental and other medical sciences students. Around 500 skull observed and we find only one skull with absence of left coronal suture completely. Results: The length of coronal suture was 24.8+1.4cm length, the distance between nasion to bregma was 126.7 +10.25 mm and Midsupraorbital rim to cranial suture was 102.76+8.64mm We have found only one skull with absence of coronal suture. Some of the skulls shows partly fusion of sagittal, coronal sutures. The skull with complete absence of coronal suture showing the features of other sutures clearly and right side of coronal suture is showing the complete suture. The skull was not damaged and it is in perfect condition which was using by students for their osteology study. Conclusion: We found the skull with absence of left coronal suture, which may resulted due to craniosynostosis. It may be due to hot climate in India also might be resulted for absence of suture. KEY WORDS: Birth defect, Skull, Coronal suture, Craniosynostosis.


2014 ◽  
Vol 22 ◽  
pp. 68-80
Author(s):  
Rajitha Sivakumaran

Cranial suture closure has been regarded as an unreliable method for age estimation due to the large amount ofvariability in the commencement, progression and termination of fusion. The Hamann Todd Osteological Collectionwas used to examine the sagittal, coronal and lambdoid sutures in an attempt to determine the impact of sex and ancestry on synostosis. The sagittal does not appear to be impacted by sex, but in the coronal and lambdoid sutures,significant sex-based differences were noted. Generally, females exhibited greater progression than males, butsynostosis was more strongly related to age in males. Stronger age-score correlations were present in black individuals compared to white individuals. This questions the application of current cranial aging methods, which do not address sex- and population-based differences in the commencement, progression and termination ofsutural fusion.


2021 ◽  
Vol 3 (1) ◽  
pp. 17-30
Author(s):  
Nilesh Keshav Tumram ◽  
Soniya B.Parchake ◽  
Arun P. Kasote ◽  
Meena M. Meshram

Background:- Age estimation is one of the important parameters for estimation of biological profile of an individual. Generally speaking, estimation of age of an individual whether living or dead is very important in Medicolegal and forensic scenario. The objective of the present study was to observe the chronology and pattern of union of cranial sutures namely coronal and lambdoid and to find out the relationship between closure of cranial suture and age of the deceased. An attempt was also made to see the applicability of Acsadi and Nemeskeri method in an Indian population. A total of 193 adult calvaria (133 males and 60 females) were studied from the autopsy cases. The extent of obliteration was studied ectocranially and endocranially in the two main sutures of the calvarium i.e. coronal and lambdoid. Results:- The results indicate that a strong positive correlation of ectocranial with endocranial suture closure is found in the age group of 30-39 years for right coronal, left coronal, while age group of 60-69 years shows a strong positive correlation for lambdoid sutures. This has also been confirmed in the study that the cranial suture obliteration starts endocranially and proceeds towards ectocranial surface. Statistically insignificant sex differences exist in suture closure. Conclusion:- The coronal and lambdoid sutures were closed in the age group of above 70 years with mean values of 3.54 for coronal and 3.7 for lambdoid suture. Acsadi and Nemeskeri’s method was found to be applicable to the Indian population for determination of age from cranial sutures.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nashaiman Pervaiz ◽  
Hongen Kang ◽  
Yiming Bao ◽  
Amir Ali Abbasi

Abstract Background There has been a rapid increase in the brain size relative to body size during mammalian evolutionary history. In particular, the enlarged and globular brain is the most distinctive anatomical feature of modern humans that set us apart from other extinct and extant primate species. Genetic basis of large brain size in modern humans has largely remained enigmatic. Genes associated with the pathological reduction of brain size (primary microcephaly-MCPH) have the characteristics and functions to be considered ideal candidates to unravel the genetic basis of evolutionary enlargement of human brain size. For instance, the brain size of microcephaly patients is similar to the brain size of Pan troglodyte and the very early hominids like the Sahelanthropus tchadensis and Australopithecus afarensis. Results The present study investigates the molecular evolutionary history of subset of autosomal recessive primary microcephaly (MCPH) genes; CEP135, ZNF335, PHC1, SASS6, CDK6, MFSD2A, CIT, and KIF14 across 48 mammalian species. Codon based substitutions site analysis indicated that ZNF335, SASS6, CIT, and KIF14 have experienced positive selection in eutherian evolutionary history. Estimation of divergent selection pressure revealed that almost all of the MCPH genes analyzed in the present study have maintained their functions throughout the history of placental mammals. Contrary to our expectations, human-specific adoptive evolution was not detected for any of the MCPH genes analyzed in the present study. Conclusion Based on these data it can be inferred that protein-coding sequence of MCPH genes might not be the sole determinant of increase in relative brain size during primate evolutionary history.


2021 ◽  
Vol 22 (14) ◽  
pp. 7664
Author(s):  
Katarzyna Bartkowska ◽  
Krzysztof Turlejski ◽  
Beata Tepper ◽  
Leszek Rychlik ◽  
Peter Vogel ◽  
...  

Shrews are small animals found in many different habitats. Like other mammals, adult neurogenesis occurs in the subventricular zone of the lateral ventricle (SVZ) and the dentate gyrus (DG) of the hippocampal formation. We asked whether the number of new generated cells in shrews depends on their brain size. We examined Crocidura russula and Neomys fodiens, weighing 10–22 g, and Crocidura olivieri and Suncus murinus that weigh three times more. We found that the density of proliferated cells in the SVZ was approximately at the same level in all species. These cells migrated from the SVZ through the rostral migratory stream to the olfactory bulb (OB). In this pathway, a low level of neurogenesis occurred in C. olivieri compared to three other species of shrews. In the DG, the rate of adult neurogenesis was regulated differently. Specifically, the lowest density of newly generated neurons was observed in C. russula, which had a substantial number of new neurons in the OB compared with C. olivieri. We suggest that the number of newly generated neurons in an adult shrew’s brain is independent of the brain size, and molecular mechanisms of neurogenesis appeared to be different in two neurogenic structures.


1993 ◽  
Vol 137 (1) ◽  
pp. 49-NP ◽  
Author(s):  
F. Facchinetti ◽  
A. R. Genazzani ◽  
M. Vallarino ◽  
M. Pestarino ◽  
A. Polzonetti-Magni ◽  
...  

ABSTRACT The presence and activity of brain, pituitary and testicular β-endorphin (β-EP)-like material have been studied in the frog, Rana esculenta, using reverse-phase high-pressure liquid chromatography, coupled with radioimmunoassay and immunocytochemistry. In-vivo and in-vitro treatments with naltrexone were carried out to assess the putative physiological activity of opioid peptides. β(1–31) and (1–27), together with their acetylated forms, have been identified in brain, pituitary and testis. In particular, β-EP(1–31) concentrations peaked during July in the brain and pituitary, whilst in testes maximum concentrations were found in April and November. β-EP immunoreactivity was present in the brain within the nucleus preopticus and nucleus infundibularis ventralis while positive fibres in the retrochiasmatic regions projected to the median eminence. In the testis, interstitial cells, canaliculi of the efferent system, spermatogonia and spermatocytes showed positive immunostaining for β-EP. In intact animals, naltrexone treatment increased plasma and testicular androgen levels and this effect was confirmed in in-vitro incubations of minced testes. Naltrexone also induced a significant increase in germ cell degeneration. Our results indicated that an opioid system modulates the hypothalamus-pituitary-gonadal axis in the frog, Rana esculenta and, for the first time, we have shown that the testicular activity of a non-mammalian species may be regulated by opiates locally. Journal of Endocrinology (1993) 137, 49–57


1980 ◽  
Vol 238 (1) ◽  
pp. R76-R81 ◽  
Author(s):  
H. F. Cserr ◽  
M. Bundgaard ◽  
J. K. Ashby ◽  
M. Murray

The size of choroid plexuses and cerebral ventricles relative to brain varies widely among vertebrates. The functional significance of this variability has attracted little attention since Herrick's original proposal that large choroid plexuses might enhance oxygen delivery to the brain and therefore be of adaptive value in the transition of vertebrates from water to air breathing. We compared choroid plexus and brain weight or ventricular and brain volume in 40 species from nine vertebrate groups. Both choroid plexus weight and ventricular volume were unrelated to brain size. Plexus weight ranged from 0 to 5.2% of brain weight and ventricular volume from 0.9 to 132% of brain volume. Amid this diversity the dipnoans, chondrosteans, holosteans, amphibians, and crossopterygian examined in this study are exceptional in uniformly having large plexuses. The adaptive significance of large choroid plexuses may lie in the presence of specific homeostatic mechanisms and their role in the response to the increases in PCO2 that accompany the transition to air breathing.


2010 ◽  
Vol 4 ◽  
pp. MRI.S5885 ◽  
Author(s):  
Trevor J. Vincent ◽  
Jonathan D. Thiessen ◽  
Laryssa M. Kurjewicz ◽  
Shelley L. Germscheid ◽  
Allan J. Turner ◽  
...  

There appear to be species differences among the effects of gene mutations related to familial Alzheimer's disease on the brain during aging. To gain a better understanding of the effects of the Swedish mutation of amyloid precursor protein and the mutant form of human presenilin 1 on mice, commercially available mice from Jackson Laboratory were studied. Three dimensional T2*-weighted imaging was used to monitor the size of brains of APP/PS1 mice monthly, from 6 to 13 months of age. No significant difference was measured in the size of the medial-lateral width, dorsal-ventral height, rostral-caudal length or the volume of the APPSwe/ PS1 mouse brain. Faster and higher-resolution imaging methods are needed to accurately determine if small volume or shape changes occur in mouse brains with age or gene mutations.


2017 ◽  
Vol 61 (4) ◽  
pp. 5-11 ◽  
Author(s):  
C. S. Ibe ◽  
S. O. Salami ◽  
N. Wanmi

Abstract As a sequel to the current advancement in ethology, this study was designed to provide information on the brain size of the African grasscutter at specific postnatal periods and to extrapolate these findings to the behaviour of the rodent in its natural habitat. Brain samples were extracted from African grasscutter neonates on postnatal day 6, juveniles on postnatal day 72 and adults on postnatal day 450 by basic neuro-anatomical techniques. The weight, volume and dimensions of the brain samples were determined in absolute and relative terms. Their encephalisation quotient was also computed. There was a very strong positive correlation between nose-rump length and brain length in the neonates. The relative brain weight of neonates, juveniles and adults were 3.84 ± 0.12 %, 2.49 ± 0.07 % and 0.44 ± 0.03 %, respectively. The differences were significant (P < 0.05). The encephalisation quotient of juveniles was 1.62 ± 0.03 while that of the adult was 0.49 ± 0.02. The difference was significant (P < 0.05). The results were extrapolated to the animal’s cognitive ability, and compared with other rodents. It was concluded that the juvenile African grasscutter may have higher cognitive ability than the adult rodent, thus, juveniles should be preferred in physiological studies of memory and cognition.


2009 ◽  
Vol 297 (5) ◽  
pp. H1776-H1782 ◽  
Author(s):  
Che-Lin Hu ◽  
Rachna Chandra ◽  
Hui Ge ◽  
Jayashree Pain ◽  
Lin Yan ◽  
...  

Adenylyl cyclase (AC) types 5 and 6 (AC5 and AC6) are the two major AC isoforms expressed in the mammalian heart that mediate signals from β-adrenergic receptor stimulation. Because of the unavailability of isoform-specific antibodies, it is difficult to ascertain the expression levels of AC5 protein in the heart. Here we demonstrated the successful generation of an AC5 isoform-specific mouse monoclonal antibody and studied the expression of AC5 protein during cardiac development in different mammalian species. The specificity of the antibody was confirmed using heart and brain tissues from AC5 knockout mice and from transgenic mice overexpressing AC5. In mice, the AC5 protein was highest in the brain but was also detectable in all organs studied, including the heart, brain, lung, liver, stomach, kidney, skeletal muscle, and vascular tissues. Western blot analysis showed that AC5 was most abundant in the neonatal heart and declined to basal levels in the adult heart. AC5 protein increased in the heart with pressure-overload left ventricular hypertrophy. Thus this new AC5 antibody demonstrated that this AC isoform behaves similarly to fetal type genes, such as atrial natriuretic peptide; i.e., it declines with development and increases with pressure-overload hypertrophy.


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