Body shape and thorax



Yüklə 550 b.
tarix19.01.2018
ölçüsü550 b.









Body shape and thorax

  • Body shape and thorax

  • Cranial properties (brain case and face)

  • Small canine teeth

  • Skull balanced upright on vertebral column

  • Reduced hair cover

  • Enhanced sweating

  • Dimensions of the pelvis

  • Elongated thumb and shortened fingers

  • Relative limb length



FOXP2

  • FOXP2

    • Mutated in family with language disability
  • ASPM/MCPH

    • Mutated in individuals with microcephaly
  • HAR1F

    • Gene sequence highly changed in humans
  • SRGAP2 (neuronal migration?)

  • DUF1220 protein domains

    • Highly increased in copy number in humans; expressed in important brain regions






Single nucleotide substitutions

  • Single nucleotide substitutions

  • - change gene expression

  • - change gene structure

  • Genome rearrangement

  • Gene/segmental duplication

  • - copy number change

  • - value of redundancy

































DUF1220 shows greatest human specific copy number expansion of any protein coding sequence in the human genome

  • DUF1220 shows greatest human specific copy number expansion of any protein coding sequence in the human genome

  • Show signs of positive selection

  • Human increase primarily due to domain amplification (rather than gene duplication)





* Branch points in millions of years.

  • * Branch points in millions of years.



















Show the largest human lineage-specific increase in copy number of any protein coding region in the genome (160 HLS; >270 total in haploid genome)

  • Show the largest human lineage-specific increase in copy number of any protein coding region in the genome (160 HLS; >270 total in haploid genome)

  • Show signs of positive selection especially in primates

  • In brain, are expressed only in neurons

  • Are highly amplified in human, reduced in great apes, further reduced in monkeys, single-or-low copy in prosimians and non-primate mammals, and absent in non-mammals

  • Have increased in human primarily by domain hyper-amplification involving DUF1220 triplet





Recurrent Reciprocal 1q21.1 Deletions and Duplications Associated with Microcephaly or Macrocephaly and Developmental and Behavioral Disorders

  • Recurrent Reciprocal 1q21.1 Deletions and Duplications Associated with Microcephaly or Macrocephaly and Developmental and Behavioral Disorders

          • Brunetti-Pierri, et al, Nature Genetics 2008
  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

          • Mefford, et al, N. Engl. J. Med. 2008
  • *Implies the copy number (dosage) of one or more genes in this region is influencing brain size in a dose-dependent manner

  • These CNVs encompass or are immediately flanked by DUF1220 sequences (Dumas & Sikela, Cold Spring Harbor Symposium Quant. Biol., 2009)








Yüklə 550 b.

Dostları ilə paylaş:




Verilənlər bazası müəlliflik hüququ ilə müdafiə olunur ©muhaz.org 2020
rəhbərliyinə müraciət

    Ana səhifə