Trisomy 21 and facial developmental instability.

Abstract:

:The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: (1) DS individuals (n = 55); (2) biological siblings of DS individuals (n = 55); 3) and 4) two samples of typically developing individuals (n = 55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence.

journal_name

Am J Phys Anthropol

authors

Starbuck JM,Cole TM 3rd,Reeves RH,Richtsmeier JT

doi

10.1002/ajpa.22255

subject

Has Abstract

pub_date

2013-05-01 00:00:00

pages

49-57

issue

1

eissn

0002-9483

issn

1096-8644

journal_volume

151

pub_type

杂志文章
  • Distribution of HLA antigens in Polish and German populations in Milwaukee, Wisconsin.

    abstract::Gene and haplotype frequencies for HLA-A and HLA-B antigens were determined in Milwaukee blood donors of German and Polish descent. Gene frequencies for A25 and B18 were significantly higher in Poles than in Germans. Significant gametic associations were noted for A1-B8, A29-B12 and AW30-B13 in both populations. Gamet...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330500103

    authors: Stevenson JC,Duquesnoy RJ

    更新日期:1978-01-01 00:00:00

  • Body fat distribution of children and adolescents in Abeokuta, Southwest Nigeria.

    abstract::Excessive central fat in children and adolescents is a risk factor for cardiovascular and metabolic disorders. This study aimed to compare the body fat distribution patterns of children and adolescents in Abeokuta, Nigeria with international reference standards. Five hundred seventy children aged 5 to 19 years were se...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.22241

    authors: Senbanjo IO,Oshikoya KA,Olutekunbi OA,Njokanma OF

    更新日期:2013-04-01 00:00:00

  • Genetic variation in North Amerindian populations: association with sociocultural complexity.

    abstract::A survey of nine polymorphic loci for 82 North Amerindian populations was undertaken to test the hypothesis that increasing levels of sociocultural complexity are ineluctably accompanied by increased heterozygosity. The data reveal a significant relationship in the predicted direction. Moreover, the significant correl...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330670308

    authors: Suarez BK,O'Rourke DH,Crouse JD

    更新日期:1985-07-01 00:00:00

  • Demographic correlates of paternity confidence and pregnancy outcomes among Albuquerque men.

    abstract::We examine the demographic correlates of paternity confidence, or men's assessment of the likelihood that they are the genetic father of a particular child. Evolutionary theory predicts that men will provide less parental investment for putative genetic offspring who are unlikely to be their actual offspring, but conf...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.20452

    authors: Anderson KG,Kaplan H,Lancaster JB

    更新日期:2006-12-01 00:00:00

  • Capture techniques and morphological measurements of the mona monkey (Cercopithecus mona) on the island of Grenada, West Indies.

    abstract::Morphological measurements were collected from 12 wild and 12 captive mona monkeys (Cercopithecus mona) on the Caribbean island of Grenada. Mona monkeys were introduced to Grenada from Africa approximately 200 to 300 years ago during the slave trade era. Wild monkeys were captured using either 1) a baited treadle-door...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8644(199804)105:4<481::AID-AJPA

    authors: Glenn ME,Bensen KJ

    更新日期:1998-04-01 00:00:00

  • Coming to grips with economic development: Variation in adult hand grip strength during health transition in Vanuatu.

    abstract:OBJECTIVES:To determine whether (1) maximal handgrip strength (HGS) is associated with inter-island level of economic development in Vanuatu, (2) how associations between island of residence and HGS are mediated by age, sex, body size/composition, and individual sociodeomographic variation, and (3) whether HGS is predi...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.23704

    authors: Olszowy KM,Little MA,Lee G,Pomer A,Dancause KN,Sun C,Silverman H,Chan CW,Tarivonda L,Kaneko A,Weitz C,Koji Lum J,Garruto RM

    更新日期:2018-12-01 00:00:00

  • Shape components of the maxillary molars in Australian aboriginals.

    abstract::Principal components analysis was used to quantify the variability in crown outlines of maxillary molars in Australian Aboriginals. The outlines were measured by 36 radii from the central pit to the crown periphery. The first component, responsible for over half of the total variance, was concerned with general crown ...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330820306

    authors: Yamada H,Brown T

    更新日期:1990-07-01 00:00:00

  • Neutron-based computed microtomography: Pliobates cataloniae and Barberapithecus huerzeleri as a test-case study.

    abstract:OBJECTIVES:High-resolution imaging of fossils with X-ray computed microtomography (μCT) has become a very powerful tool in paleontological research. However, fossilized bone, embedding matrix, and dental tissues do not always provide a distinct structural signal with X-rays. We demonstrate the benefits of high-resoluti...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.23467

    authors: Urciuoli A,Zanolli C,Fortuny J,Almécija S,Schillinger B,Moyà-Solà S,Alba DM

    更新日期:2018-08-01 00:00:00

  • Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe.

    abstract::The control region of mitochondrial DNA has been widely studied in various human populations. This paper reports sequence data for hypervariable segments 1 and 2 of the control region from a population from southern Tuscany (Italy). The results confirm the high variability of the control region, with 43 different hapl...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8644(199608)100:4<443::AID-AJPA

    authors: Francalacci P,Bertranpetit J,Calafell F,Underhill PA

    更新日期:1996-08-01 00:00:00

  • Computed tomography and enamel thickness of maxillary molars of Plio-Pleistocene hominids from Sterkfontein, Swartkrans, and Kromdraai (South Africa): An exploratory study.

    abstract::This paper is one in a series which explores the possibility of using the non-destructive CT technique to identify patterns in tooth enamel distribution and structure of hominid molars from Plio-Pleistocene sites in South Africa, notably Swartkrans, Sterkfontein, and Kromdraai. Whereas previous investigators have emph...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330890202

    authors: Macho GA,Thackeray JF

    更新日期:1992-10-01 00:00:00

  • Hormone measures in finger-prick blood spot samples: new field methods for reproductive endocrinology.

    abstract::Comparative endocrine studies have notably advanced understanding of ecological factors that contribute to variation in human reproductive function. Such research has relied on methodological advances that permit hormone determinations in samples that are easily and safely collected, stored, and transported, most rece...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8644(199709)104:1<1::AID-AJPA1>

    authors: Worthman CM,Stallings JF

    更新日期:1997-09-01 00:00:00

  • Genetic variation in Arizona Mexican Americans: estimation and interpretation of admixture proportions.

    abstract::Mexican Americans are a numerous and fast growing ethnic population in the United States. Yet little is known about their genetic structure. Since they are a hybrid, it is of interest to identify their parental populations and to estimate the relative contributions of these groups. This information is relevant to hist...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330840204

    authors: Long JC,Williams RC,McAuley JE,Medis R,Partel R,Tregellas WM,South SF,Rea AE,McCormick SB,Iwaniec U

    更新日期:1991-02-01 00:00:00

  • On the taxonomic affinities of the Dmanisi mandible (Georgia).

    abstract::The recent discovery of unexpectedly ancient human remains has fuelled interest about the first dispersion of Homo outside Africa. The Dmanisi mandible is perhaps one of the most interesting findings, as it supposedly represents one of the oldest hominids outside of Africa. Recently, different interpretations have bee...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8644(199810)107:2<145::AID-AJPA

    authors: Rosas A,Bermúdez de Castro JM

    更新日期:1998-10-01 00:00:00

  • Rib remodeling dynamics in a skeletal population from Kulubnarti, Nubia.

    abstract::Bone remodeling variables in the rib were analyzed for a skeletal population of medieval antiquity (ca. A.D. 550-1450) from Kulubnarti, in Sudanese Nubia. The skeletal remains are naturally mummified and in an excellent state of preservation. The study sample consists of thin sections from the ribs of 80 individuals, ...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8644(200004)111:4<519::AID-AJPA

    authors: Mulhern DM

    更新日期:2000-04-01 00:00:00

  • Cross-cultural correlations of childhood growth and adult breast cancer.

    abstract::International differences in breast cancer incidence and mortality, and studies on Japanese migrants to the United States, point to the importance of environmental factors, including diet and nutrition, in the etiology of breast cancer. Some studies have suggested that dietary patterns in early life are important to t...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330730415

    authors: Micozzi MS

    更新日期:1987-08-01 00:00:00

  • Diet and health changes at the end of the Chinese neolithic: the Yangshao/Longshan transition in Shaanxi province.

    abstract::In this paper we discuss diet and health changes of millet agriculturists in Northern China, Shaanxi province, during the period 7,000-4,000 BP. An episode of intensive climatic oscillations that preceded the onset of colder climate circa the fifth millennium BP divides the period (Shi et al. [1993] Global Planet. Cha...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.10014

    authors: Pechenkina EA,Benfer RA Jr,Zhijun W

    更新日期:2002-01-01 00:00:00

  • The 5th national survey on the physical growth and development of children in the nine cities of China: Anthropometric measurements of Chinese children under 7 years in 2015.

    abstract:OBJECTIVES:To describe the physical growth of healthy children under 7 years in China based on the latest national survey and provide more data for revising growth reference and monitoring the impact of social development on children's health and growth. METHODS:In the cross-sectional survey, 161,774 healthy children ...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.23224

    authors: Zhang YQ,Li H,Wu HH,Zong XN,Zhu ZH,Pan Y,Li J,Zheng XR,Wei M,Tong ML,Zhou AF,Hu Y,Chen W,Zhu K,Yu Y

    更新日期:2017-07-01 00:00:00

  • Population history of native groups in pre- and postcontact Spanish Florida: aggregation, gene flow, and genetic drift on the Southeastern U.S. Atlantic coast.

    abstract::Evolutionary trends and population history and structure are discussed for a series of late prehistoric and historic-period skeletal samples from the Georgia coast and interior (the Guale). Phenotypic dental measurement data were collected for nine samples from the late prehistoric (AD 1200-1400) and historic (AD 1608...

    journal_title:American journal of physical anthropology

    pub_type: 历史文章,杂志文章

    doi:10.1002/ajpa.10320

    authors: Stojanowski CM

    更新日期:2004-04-01 00:00:00

  • Maternal mortality or prolonged growth: age at death and pelvic size in three prehistoric Amerindian populations.

    abstract::This study evaluates the relationship between age at death and pelvic size among adults in three prehistoric Amerindian populations. The issue is to identify if the pelvis continues to grow and remodel in adulthood, or if there is differential survivorship among adults, particularly among females, based on pelvic size...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330950103

    authors: Tague RG

    更新日期:1994-09-01 00:00:00

  • Growth of the maxillary complex in the rhesus monkey (Macaca mulatta).

    abstract::The growth of the maxillary complex of 36 rhesus monkeys (Macaca mulatta) was analyzed quantitatively and qualitatively during four defined stages of postnatal development (i.e., infant, juvenile, adolescent, young adult). At each stage, growth was observed during a 24 week period. Since some animals were observed dur...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330440104

    authors: McNamara JA Jr,Riolo ML,Enlow DH

    更新日期:1976-01-01 00:00:00

  • Commingled crypts: Comparative health among Byzantine monastics in the Levant.

    abstract:OBJECTIVES:Early Byzantine (A.D. 330-842) monastic rules stipulated that entrants relinquished familial connections, personal belongings and secular relationships to become part of the ascetic collective that continued in death, resulting in bioarchaeological marginalization, as was the case of the monastics excavated ...

    journal_title:American journal of physical anthropology

    pub_type: 历史文章,杂志文章

    doi:10.1002/ajpa.23993

    authors: Judd MA

    更新日期:2020-05-01 00:00:00

  • Orthogonal factor coefficient development of subcutaneous adipose tissue topography (SAT-Top) in girls and boys.

    abstract::The new optical device Lipometer allows noninvasive, quick, and safe determination of the thickness of subcutaneous adipose tissue (SAT) layers (in mm) at any site of the human body. The specification of 15 evenly distributed body sites enables the precise measurement of subcutaneous body fat distribution, so-called s...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1056

    authors: Tafeit E,Möller R,Sudi K,Horejsi R,Berg A,Reibnegger G

    更新日期:2001-05-01 00:00:00

  • Comparing Dirichlet normal surface energy of tooth crowns, a new technique of molar shape quantification for dietary inference, with previous methods in isolation and in combination.

    abstract::Inferred dietary preference is a major component of paleoecologies of extinct primates. Molar occlusal shape correlates with diet in living mammals, so teeth are a potentially useful structure from which to reconstruct diet in extinct taxa. We assess the efficacy of Dirichlet normal energy (DNE) calculated for molar t...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.21489

    authors: Bunn JM,Boyer DM,Lipman Y,St Clair EM,Jernvall J,Daubechies I

    更新日期:2011-06-01 00:00:00

  • Paleoamerican morphology in the context of European and East Asian late Pleistocene variation: implications for human dispersion into the New World.

    abstract::Early American crania show a different morphological pattern from the one shared by late Native Americans. Although the origin of the diachronic morphological diversity seen on the continents is still debated, the distinct morphology of early Americans is well documented and widely dispersed. This morphology has been ...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.21425

    authors: Hubbe M,Harvati K,Neves W

    更新日期:2011-03-01 00:00:00

  • Genetic structure and sex-biased gene flow in the history of southern African populations.

    abstract:OBJECTIVES:We investigated the genetic history of southern African populations with a special focus on their paternal history. We reexamined previous claims that the Y-chromosome haplogroup E1b1b (E-M293) was brought to southern Africa by pastoralists from eastern Africa, and investigated patterns of sex-biased gene fl...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.23694

    authors: Bajić V,Barbieri C,Hübner A,Güldemann T,Naumann C,Gerlach L,Berthold F,Nakagawa H,Mpoloka SW,Roewer L,Purps J,Stoneking M,Pakendorf B

    更新日期:2018-11-01 00:00:00

  • Modeling neolithic dispersal in central Europe: demographic implications.

    abstract::On the basis of new examination of ancient DNA and craniometric analyses, Neolithic dispersal in Central Europe has been recently explained as reflecting colonization or at least a major influx of near eastern farmers. Given the fact that Neolithic dispersal in Central Europe was very rapid and extended into a large a...

    journal_title:American journal of physical anthropology

    pub_type: 历史文章,杂志文章

    doi:10.1002/ajpa.21572

    authors: Galeta P,Sládek V,Sosna D,Bruzek J

    更新日期:2011-09-01 00:00:00

  • Biocultural evidence of precise manual activities in an Early Holocene individual of the high-altitude Peruvian Andes.

    abstract:OBJECTIVES:Cuncaicha, a rockshelter site in the southern Peruvian Andes, has yielded archaeological evidence for human occupation at high elevation (4,480 masl) during the Terminal Pleistocene (12,500-11,200 cal BP), Early Holocene (9,500-9,000 cal BP), and later periods. One of the excavated human burials (Feature 15-...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.24160

    authors: Karakostis FA,Reyes-Centeno H,Franken M,Hotz G,Rademaker K,Harvati K

    更新日期:2021-01-01 00:00:00

  • Brief communication: cortical remodeling data are affected by sampling location.

    abstract::It has been argued that techniques for estimating adult age-at-death from cortical histology are deleteriously affected by sampling location. This study uses nine complete femoral midshaft cross-sections to test the effect of sampling site on measurement of a standard histological variable, percent remodeled bone. Cir...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.1330960110

    authors: Pfeiffer S,Lazenby R,Chiang J

    更新日期:1995-01-01 00:00:00

  • The pattern of involvement of appendicular degenerative joint disease.

    abstract::Patterns of degenerative joint disease are investigated in the shoulder, elbow, hip, and knee joints of the macerated remains of approximately 800 individuals from 20th century American and two prehistoric populations. Age is an important contributory factor in all joints, but its effects are seen most directly in the...

    journal_title:American journal of physical anthropology

    pub_type: 历史文章,杂志文章

    doi:10.1002/ajpa.1330530119

    authors: Jurmain RD

    更新日期:1980-07-01 00:00:00

  • Pleistocene-Holocene boundary in Southern Arabia from the perspective of human mtDNA variation.

    abstract::It is now known that several population movements have taken place at different times throughout southern Arabian prehistory. One of the principal questions under debate is if the Early Holocene peopling of southern Arabia was mainly due to input from the Levant during the Pre-Pottery Neolithic B, to the expansion of ...

    journal_title:American journal of physical anthropology

    pub_type: 杂志文章

    doi:10.1002/ajpa.22131

    authors: Al-Abri A,Podgorná E,Rose JI,Pereira L,Mulligan CJ,Silva NM,Bayoumi R,Soares P,Cerný V

    更新日期:2012-10-01 00:00:00